SNP Links for Protein (Select 355477272) - SNP

Select item 14896321421.

rs1489632142 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:50915524 (GRCh38)
15:51207721 (GRCh37)
Canonical SPDI:: NC_000015.10:50915523:A:G
Gene:: AP4E1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.50915524A>G, NC_000015.9:g.51207721A>G, NG_031875.2:g.11853A>G, NM_007347.5:c.299A>G, NM_007347.4:c.299A>G, NM_001252127.2:c.74A>G, NM_001252127.1:c.74A>G, XM_005254264.5:c.74A>G, XM_005254264.4:c.74A>G, XM_005254264.3:c.74A>G, XM_005254264.2:c.74A>G, XM_005254264.1:c.74A>G, XM_006720447.5:c.74A>G, XM_006720447.4:c.74A>G, XM_006720447.3:c.74A>G, XM_006720447.2:c.74A>G, XM_006720447.1:c.74A>G, XM_047432325.1:c.74A>G, XM_047432324.1:c.74A>G, XM_047432326.1:c.74A>G, NP_031373.2:p.His100Arg, NP_001239056.1:p.His25Arg, XP_005254321.1:p.His25Arg, XP_006720510.1:p.His25Arg, XP_047288281.1:p.His25Arg, XP_047288280.1:p.His25Arg, XP_047288282.1:p.His25Arg

Select item 14883198972.

rs1488319897 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:50999248 (GRCh38)
15:51291445 (GRCh37)
Canonical SPDI:: NC_000015.10:50999247:A:G
Gene:: AP4E1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.50999248A>G, NC_000015.9:g.51291445A>G, NG_031875.2:g.95577A>G, NM_007347.5:c.3081A>G, NM_007347.4:c.3081A>G, NM_001252127.2:c.2856A>G, NM_001252127.1:c.2856A>G, XM_005254264.5:c.2856A>G, XM_005254264.4:c.2856A>G, XM_005254264.3:c.2856A>G, XM_005254264.2:c.2856A>G, XM_005254264.1:c.2856A>G, XM_006720447.5:c.2856A>G, XM_006720447.4:c.2856A>G, XM_006720447.3:c.2856A>G, XM_006720447.2:c.2856A>G, XM_006720447.1:c.2856A>G, XM_047432325.1:c.2856A>G, XM_047432324.1:c.2856A>G, XM_047432327.1:c.1731A>G

Select item 14877525043.

rs1487752504 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:50941463 (GRCh38)
15:51233660 (GRCh37)
Canonical SPDI:: NC_000015.10:50941462:A:G
Gene:: AP4E1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.50941463A>G, NC_000015.9:g.51233660A>G, NG_031875.2:g.37792A>G, NM_007347.5:c.965A>G, NM_007347.4:c.965A>G, NM_001252127.2:c.740A>G, NM_001252127.1:c.740A>G, XM_005254264.5:c.740A>G, XM_005254264.4:c.740A>G, XM_005254264.3:c.740A>G, XM_005254264.2:c.740A>G, XM_005254264.1:c.740A>G, XM_006720447.5:c.740A>G, XM_006720447.4:c.740A>G, XM_006720447.3:c.740A>G, XM_006720447.2:c.740A>G, XM_006720447.1:c.740A>G, XM_047432325.1:c.740A>G, XM_047432324.1:c.740A>G, XM_047432326.1:c.740A>G, NP_031373.2:p.His322Arg, NP_001239056.1:p.His247Arg, XP_005254321.1:p.His247Arg, XP_006720510.1:p.His247Arg, XP_047288281.1:p.His247Arg, XP_047288280.1:p.His247Arg, XP_047288282.1:p.His247Arg

Select item 14873527664.

rs1487352766 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:50930962 (GRCh38)
15:51223159 (GRCh37)
Canonical SPDI:: NC_000015.10:50930961:A:G
Gene:: AP4E1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.50930962A>G, NC_000015.9:g.51223159A>G, NG_031875.2:g.27291A>G, NM_007347.5:c.860A>G, NM_007347.4:c.860A>G, NM_001252127.2:c.635A>G, NM_001252127.1:c.635A>G, XM_005254264.5:c.635A>G, XM_005254264.4:c.635A>G, XM_005254264.3:c.635A>G, XM_005254264.2:c.635A>G, XM_005254264.1:c.635A>G, XM_006720447.5:c.635A>G, XM_006720447.4:c.635A>G, XM_006720447.3:c.635A>G, XM_006720447.2:c.635A>G, XM_006720447.1:c.635A>G, XM_047432325.1:c.635A>G, XM_047432324.1:c.635A>G, XM_047432326.1:c.635A>G, NP_031373.2:p.Asp287Gly, NP_001239056.1:p.Asp212Gly, XP_005254321.1:p.Asp212Gly, XP_006720510.1:p.Asp212Gly, XP_047288281.1:p.Asp212Gly, XP_047288280.1:p.Asp212Gly, XP_047288282.1:p.Asp212Gly

Select item 14872215825.

rs1487221582 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:50968318 (GRCh38)
15:51260515 (GRCh37)
Canonical SPDI:: NC_000015.10:50968317:G:A
Gene:: AP4E1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.50968318G>A, NC_000015.9:g.51260515G>A, NG_031875.2:g.64647G>A, NM_007347.5:c.1907G>A, NM_007347.4:c.1907G>A, NM_001252127.2:c.1682G>A, NM_001252127.1:c.1682G>A, XM_005254264.5:c.1682G>A, XM_005254264.4:c.1682G>A, XM_005254264.3:c.1682G>A, XM_005254264.2:c.1682G>A, XM_005254264.1:c.1682G>A, XM_006720447.5:c.1682G>A, XM_006720447.4:c.1682G>A, XM_006720447.3:c.1682G>A, XM_006720447.2:c.1682G>A, XM_006720447.1:c.1682G>A, XM_047432325.1:c.1682G>A, XM_047432324.1:c.1682G>A, XM_047432327.1:c.557G>A, XM_047432326.1:c.1682G>A, NP_031373.2:p.Gly636Asp, NP_001239056.1:p.Gly561Asp, XP_005254321.1:p.Gly561Asp, XP_006720510.1:p.Gly561Asp, XP_047288281.1:p.Gly561Asp, XP_047288280.1:p.Gly561Asp, XP_047288283.1:p.Gly186Asp, XP_047288282.1:p.Gly561Asp

Select item 14864899016.

rs1486489901 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:50993612 (GRCh38)
15:51285809 (GRCh37)
Canonical SPDI:: NC_000015.10:50993611:G:C
Gene:: AP4E1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000015.10:g.50993612G>C, NC_000015.9:g.51285809G>C, NG_031875.2:g.89941G>C, NM_007347.5:c.2333G>C, NM_007347.4:c.2333G>C, NM_001252127.2:c.2108G>C, NM_001252127.1:c.2108G>C, XM_005254264.5:c.2108G>C, XM_005254264.4:c.2108G>C, XM_005254264.3:c.2108G>C, XM_005254264.2:c.2108G>C, XM_005254264.1:c.2108G>C, XM_006720447.5:c.2108G>C, XM_006720447.4:c.2108G>C, XM_006720447.3:c.2108G>C, XM_006720447.2:c.2108G>C, XM_006720447.1:c.2108G>C, XM_047432325.1:c.2108G>C, XM_047432324.1:c.2108G>C, XM_047432327.1:c.983G>C, XM_047432326.1:c.2108G>C, NP_031373.2:p.Ser778Thr, NP_001239056.1:p.Ser703Thr, XP_005254321.1:p.Ser703Thr, XP_006720510.1:p.Ser703Thr, XP_047288281.1:p.Ser703Thr, XP_047288280.1:p.Ser703Thr, XP_047288283.1:p.Ser328Thr, XP_047288282.1:p.Ser703Thr

Select item 14862967237.

rs1486296723 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:50984028 (GRCh38)
15:51276225 (GRCh37)
Canonical SPDI:: NC_000015.10:50984027:A:G
Gene:: AP4E1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.50984028A>G, NC_000015.9:g.51276225A>G, NG_031875.2:g.80357A>G, NM_007347.5:c.1973A>G, NM_007347.4:c.1973A>G, NM_001252127.2:c.1748A>G, NM_001252127.1:c.1748A>G, XM_005254264.5:c.1748A>G, XM_005254264.4:c.1748A>G, XM_005254264.3:c.1748A>G, XM_005254264.2:c.1748A>G, XM_005254264.1:c.1748A>G, XM_006720447.5:c.1748A>G, XM_006720447.4:c.1748A>G, XM_006720447.3:c.1748A>G, XM_006720447.2:c.1748A>G, XM_006720447.1:c.1748A>G, XM_047432325.1:c.1748A>G, XM_047432324.1:c.1748A>G, XM_047432327.1:c.623A>G, XM_047432326.1:c.1748A>G, NP_031373.2:p.Asn658Ser, NP_001239056.1:p.Asn583Ser, XP_005254321.1:p.Asn583Ser, XP_006720510.1:p.Asn583Ser, XP_047288281.1:p.Asn583Ser, XP_047288280.1:p.Asn583Ser, XP_047288283.1:p.Asn208Ser, XP_047288282.1:p.Asn583Ser

Select item 14848723358.

rs1484872335 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:50997505 (GRCh38)
15:51289702 (GRCh37)
Canonical SPDI:: NC_000015.10:50997504:A:G
Gene:: AP4E1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000015.10:g.50997505A>G, NC_000015.9:g.51289702A>G, NG_031875.2:g.93834A>G, NM_007347.5:c.2526A>G, NM_007347.4:c.2526A>G, NM_001252127.2:c.2301A>G, NM_001252127.1:c.2301A>G, XM_005254264.5:c.2301A>G, XM_005254264.4:c.2301A>G, XM_005254264.3:c.2301A>G, XM_005254264.2:c.2301A>G, XM_005254264.1:c.2301A>G, XM_006720447.5:c.2301A>G, XM_006720447.4:c.2301A>G, XM_006720447.3:c.2301A>G, XM_006720447.2:c.2301A>G, XM_006720447.1:c.2301A>G, XM_047432325.1:c.2301A>G, XM_047432324.1:c.2301A>G, XM_047432327.1:c.1176A>G, XM_047432326.1:c.2301A>G

Select item 14838464379.

rs1483846437 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:50997571 (GRCh38)
15:51289768 (GRCh37)
Canonical SPDI:: NC_000015.10:50997570:T:G
Gene:: AP4E1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.50997571T>G, NC_000015.9:g.51289768T>G, NG_031875.2:g.93900T>G, NM_007347.5:c.2592T>G, NM_007347.4:c.2592T>G, NM_001252127.2:c.2367T>G, NM_001252127.1:c.2367T>G, XM_005254264.5:c.2367T>G, XM_005254264.4:c.2367T>G, XM_005254264.3:c.2367T>G, XM_005254264.2:c.2367T>G, XM_005254264.1:c.2367T>G, XM_006720447.5:c.2367T>G, XM_006720447.4:c.2367T>G, XM_006720447.3:c.2367T>G, XM_006720447.2:c.2367T>G, XM_006720447.1:c.2367T>G, XM_047432325.1:c.2367T>G, XM_047432324.1:c.2367T>G, XM_047432327.1:c.1242T>G, XM_047432326.1:c.2367T>G

Select item 148384342810.

rs1483843428 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:51001044 (GRCh38)
15:51293241 (GRCh37)
Canonical SPDI:: NC_000015.10:51001043:T:C
Gene:: AP4E1 (Varview)
Functional Consequence:: terminator_codon_variant,coding_sequence_variant,synonymous_variant,stop_lost
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000015.10:g.51001044T>C, NC_000015.9:g.51293241T>C, NG_031875.2:g.97373T>C, NM_007347.5:c.3114T>C, NM_007347.4:c.3114T>C, NM_001252127.2:c.2889T>C, NM_001252127.1:c.2889T>C, XM_005254264.5:c.2889T>C, XM_005254264.4:c.2889T>C, XM_005254264.3:c.2889T>C, XM_005254264.2:c.2889T>C, XM_005254264.1:c.2889T>C, XM_006720447.5:c.2889T>C, XM_006720447.4:c.2889T>C, XM_006720447.3:c.2889T>C, XM_006720447.2:c.2889T>C, XM_006720447.1:c.2889T>C, XM_047432325.1:c.2889T>C, XM_047432324.1:c.2889T>C, XM_047432327.1:c.1764T>C, XM_047432326.1:c.2698T>C, XP_047288282.1:p.Ter900Arg

Select item 148201755811.

rs1482017558 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:50925144 (GRCh38)
15:51217341 (GRCh37)
Canonical SPDI:: NC_000015.10:50925143:T:C
Gene:: AP4E1 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.50925144T>C, NC_000015.9:g.51217341T>C, NG_031875.2:g.21473T>C, NM_007347.5:c.467T>C, NM_007347.4:c.467T>C, NM_001252127.2:c.242T>C, NM_001252127.1:c.242T>C, XM_005254264.5:c.242T>C, XM_005254264.4:c.242T>C, XM_005254264.3:c.242T>C, XM_005254264.2:c.242T>C, XM_005254264.1:c.242T>C, XM_006720447.5:c.242T>C, XM_006720447.4:c.242T>C, XM_006720447.3:c.242T>C, XM_006720447.2:c.242T>C, XM_006720447.1:c.242T>C, XM_047432325.1:c.242T>C, XM_047432324.1:c.242T>C, XM_047432326.1:c.242T>C, NP_031373.2:p.Val156Ala, NP_001239056.1:p.Val81Ala, XP_005254321.1:p.Val81Ala, XP_006720510.1:p.Val81Ala, XP_047288281.1:p.Val81Ala, XP_047288280.1:p.Val81Ala, XP_047288282.1:p.Val81Ala

Select item 148130543512.

rs1481305435 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 15:50929167 (GRCh38)
15:51221364 (GRCh37)
Canonical SPDI:: NC_000015.10:50929166:A:C,NC_000015.10:50929166:A:G
Gene:: AP4E1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
HGVS:: NC_000015.10:g.50929167A>C, NC_000015.10:g.50929167A>G, NC_000015.9:g.51221364A>C, NC_000015.9:g.51221364A>G, NG_031875.2:g.25496A>C, NG_031875.2:g.25496A>G, NM_007347.5:c.701A>C, NM_007347.5:c.701A>G, NM_007347.4:c.701A>C, NM_007347.4:c.701A>G, NM_001252127.2:c.476A>C, NM_001252127.2:c.476A>G, NM_001252127.1:c.476A>C, NM_001252127.1:c.476A>G, XM_005254264.5:c.476A>C, XM_005254264.5:c.476A>G, XM_005254264.4:c.476A>C, XM_005254264.4:c.476A>G, XM_005254264.3:c.476A>C, XM_005254264.3:c.476A>G, XM_005254264.2:c.476A>C, XM_005254264.2:c.476A>G, XM_005254264.1:c.476A>C, XM_005254264.1:c.476A>G, XM_006720447.5:c.476A>C, XM_006720447.5:c.476A>G, XM_006720447.4:c.476A>C, XM_006720447.4:c.476A>G, XM_006720447.3:c.476A>C, XM_006720447.3:c.476A>G, XM_006720447.2:c.476A>C, XM_006720447.2:c.476A>G, XM_006720447.1:c.476A>C, XM_006720447.1:c.476A>G, XM_047432325.1:c.476A>C, XM_047432325.1:c.476A>G, XM_047432324.1:c.476A>C, XM_047432324.1:c.476A>G, XM_047432326.1:c.476A>C, XM_047432326.1:c.476A>G, NP_031373.2:p.Lys234Thr, NP_031373.2:p.Lys234Arg, NP_001239056.1:p.Lys159Thr, NP_001239056.1:p.Lys159Arg, XP_005254321.1:p.Lys159Thr, XP_005254321.1:p.Lys159Arg, XP_006720510.1:p.Lys159Thr, XP_006720510.1:p.Lys159Arg, XP_047288281.1:p.Lys159Thr, XP_047288281.1:p.Lys159Arg, XP_047288280.1:p.Lys159Thr, XP_047288280.1:p.Lys159Arg, XP_047288282.1:p.Lys159Thr, XP_047288282.1:p.Lys159Arg

Select item 148070742013.

rs1480707420 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>- [Show Flanks]
Chromosome:: 15:50993444 (GRCh38)
15:51285641 (GRCh37)
Canonical SPDI:: NC_000015.10:50993442:AAAA:A
Gene:: AP4E1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.50993444_50993446del, NC_000015.9:g.51285641_51285643del, NG_031875.2:g.89773_89775del, NM_007347.5:c.2165_2167del, NM_007347.4:c.2165_2167del, NM_001252127.2:c.1940_1942del, NM_001252127.1:c.1940_1942del, XM_005254264.5:c.1940_1942del, XM_005254264.4:c.1940_1942del, XM_005254264.3:c.1940_1942del, XM_005254264.2:c.1940_1942del, XM_005254264.1:c.1940_1942del, XM_006720447.5:c.1940_1942del, XM_006720447.4:c.1940_1942del, XM_006720447.3:c.1940_1942del, XM_006720447.2:c.1940_1942del, XM_006720447.1:c.1940_1942del, XM_047432325.1:c.1940_1942del, XM_047432324.1:c.1940_1942del, XM_047432327.1:c.815_817del, XM_047432326.1:c.1940_1942del, NP_031373.2:p.Lys722del, NP_001239056.1:p.Lys647del, XP_005254321.1:p.Lys647del, XP_006720510.1:p.Lys647del, XP_047288281.1:p.Lys647del, XP_047288280.1:p.Lys647del, XP_047288283.1:p.Lys272del, XP_047288282.1:p.Lys647del

Select item 148058125414.

rs1480581254 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:51001149 (GRCh38)
15:51293346 (GRCh37)
Canonical SPDI:: NC_000015.10:51001148:A:G
Gene:: AP4E1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.51001149A>G, NC_000015.9:g.51293346A>G, NG_031875.2:g.97478A>G, NM_007347.5:c.3219A>G, NM_007347.4:c.3219A>G, NM_001252127.2:c.2994A>G, NM_001252127.1:c.2994A>G, XM_005254264.5:c.2994A>G, XM_005254264.4:c.2994A>G, XM_005254264.3:c.2994A>G, XM_005254264.2:c.2994A>G, XM_005254264.1:c.2994A>G, XM_006720447.5:c.2994A>G, XM_006720447.4:c.2994A>G, XM_006720447.3:c.2994A>G, XM_006720447.2:c.2994A>G, XM_006720447.1:c.2994A>G, XM_047432325.1:c.2994A>G, XM_047432324.1:c.2994A>G, XM_047432327.1:c.1869A>G

Select item 148045566915.

rs1480455669 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:50950091 (GRCh38)
15:51242288 (GRCh37)
Canonical SPDI:: NC_000015.10:50950090:T:C
Gene:: AP4E1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.50950091T>C, NC_000015.9:g.51242288T>C, NG_031875.2:g.46420T>C, NM_007347.5:c.1470T>C, NM_007347.4:c.1470T>C, NM_001252127.2:c.1245T>C, NM_001252127.1:c.1245T>C, XM_005254264.5:c.1245T>C, XM_005254264.4:c.1245T>C, XM_005254264.3:c.1245T>C, XM_005254264.2:c.1245T>C, XM_005254264.1:c.1245T>C, XM_006720447.5:c.1245T>C, XM_006720447.4:c.1245T>C, XM_006720447.3:c.1245T>C, XM_006720447.2:c.1245T>C, XM_006720447.1:c.1245T>C, XM_047432325.1:c.1245T>C, XM_047432324.1:c.1245T>C, XM_047432327.1:c.120T>C, XM_047432326.1:c.1245T>C

Select item 148004382216.

rs1480043822 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:51002590 (GRCh38)
15:51294787 (GRCh37)
Canonical SPDI:: NC_000015.10:51002589:G:A
Gene:: AP4E1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.51002590G>A, NC_000015.9:g.51294787G>A, NG_031875.2:g.98919G>A, NM_007347.5:c.3342G>A, NM_007347.4:c.3342G>A, NM_001252127.2:c.3117G>A, NM_001252127.1:c.3117G>A, XM_005254264.5:c.3117G>A, XM_005254264.4:c.3117G>A, XM_005254264.3:c.3117G>A, XM_005254264.2:c.3117G>A, XM_005254264.1:c.3117G>A, XM_006720447.5:c.3117G>A, XM_006720447.4:c.3117G>A, XM_006720447.3:c.3117G>A, XM_006720447.2:c.3117G>A, XM_006720447.1:c.3117G>A, XM_047432325.1:c.3117G>A, XM_047432324.1:c.3117G>A, XM_047432327.1:c.1992G>A, NP_031373.2:p.Trp1114Ter, NP_001239056.1:p.Trp1039Ter, XP_005254321.1:p.Trp1039Ter, XP_006720510.1:p.Trp1039Ter, XP_047288281.1:p.Trp1039Ter, XP_047288280.1:p.Trp1039Ter, XP_047288283.1:p.Trp664Ter

Select item 147820152917.

rs1478201529 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:50949878 (GRCh38)
15:51242075 (GRCh37)
Canonical SPDI:: NC_000015.10:50949877:G:A
Gene:: AP4E1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.50949878G>A, NC_000015.9:g.51242075G>A, NG_031875.2:g.46207G>A, NM_007347.5:c.1369G>A, NM_007347.4:c.1369G>A, NM_001252127.2:c.1144G>A, NM_001252127.1:c.1144G>A, XM_005254264.5:c.1144G>A, XM_005254264.4:c.1144G>A, XM_005254264.3:c.1144G>A, XM_005254264.2:c.1144G>A, XM_005254264.1:c.1144G>A, XM_006720447.5:c.1144G>A, XM_006720447.4:c.1144G>A, XM_006720447.3:c.1144G>A, XM_006720447.2:c.1144G>A, XM_006720447.1:c.1144G>A, XM_047432325.1:c.1144G>A, XM_047432324.1:c.1144G>A, XM_047432327.1:c.19G>A, XM_047432326.1:c.1144G>A, NP_031373.2:p.Val457Ile, NP_001239056.1:p.Val382Ile, XP_005254321.1:p.Val382Ile, XP_006720510.1:p.Val382Ile, XP_047288281.1:p.Val382Ile, XP_047288280.1:p.Val382Ile, XP_047288283.1:p.Val7Ile, XP_047288282.1:p.Val382Ile

Select item 147521883518.

rs1475218835 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:50941773 (GRCh38)
15:51233970 (GRCh37)
Canonical SPDI:: NC_000015.10:50941772:G:A
Gene:: AP4E1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000015.10:g.50941773G>A, NC_000015.9:g.51233970G>A, NG_031875.2:g.38102G>A, NM_007347.5:c.1174G>A, NM_007347.4:c.1174G>A, NM_001252127.2:c.949G>A, NM_001252127.1:c.949G>A, XM_005254264.5:c.949G>A, XM_005254264.4:c.949G>A, XM_005254264.3:c.949G>A, XM_005254264.2:c.949G>A, XM_005254264.1:c.949G>A, XM_006720447.5:c.949G>A, XM_006720447.4:c.949G>A, XM_006720447.3:c.949G>A, XM_006720447.2:c.949G>A, XM_006720447.1:c.949G>A, XM_047432325.1:c.949G>A, XM_047432324.1:c.949G>A, XM_047432326.1:c.949G>A, NP_031373.2:p.Glu392Lys, NP_001239056.1:p.Glu317Lys, XP_005254321.1:p.Glu317Lys, XP_006720510.1:p.Glu317Lys, XP_047288281.1:p.Glu317Lys, XP_047288280.1:p.Glu317Lys, XP_047288282.1:p.Glu317Lys

Select item 147416609119.

rs1474166091 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:50958713 (GRCh38)
15:51250910 (GRCh37)
Canonical SPDI:: NC_000015.10:50958712:A:G
Gene:: AP4E1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.50958713A>G, NC_000015.9:g.51250910A>G, NG_031875.2:g.55042A>G, NM_007347.5:c.1770A>G, NM_007347.4:c.1770A>G, NM_001252127.2:c.1545A>G, NM_001252127.1:c.1545A>G, XM_005254264.5:c.1545A>G, XM_005254264.4:c.1545A>G, XM_005254264.3:c.1545A>G, XM_005254264.2:c.1545A>G, XM_005254264.1:c.1545A>G, XM_006720447.5:c.1545A>G, XM_006720447.4:c.1545A>G, XM_006720447.3:c.1545A>G, XM_006720447.2:c.1545A>G, XM_006720447.1:c.1545A>G, XM_047432325.1:c.1545A>G, XM_047432324.1:c.1545A>G, XM_047432327.1:c.420A>G, XM_047432326.1:c.1545A>G

Select item 147404507420.

rs1474045074 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:50948032 (GRCh38)
15:51240229 (GRCh37)
Canonical SPDI:: NC_000015.10:50948031:C:T
Gene:: AP4E1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.50948032C>T, NC_000015.9:g.51240229C>T, NG_031875.2:g.44361C>T, NM_007347.5:c.1189C>T, NM_007347.4:c.1189C>T, NM_001252127.2:c.964C>T, NM_001252127.1:c.964C>T, XM_005254264.5:c.964C>T, XM_005254264.4:c.964C>T, XM_005254264.3:c.964C>T, XM_005254264.2:c.964C>T, XM_005254264.1:c.964C>T, XM_006720447.5:c.964C>T, XM_006720447.4:c.964C>T, XM_006720447.3:c.964C>T, XM_006720447.2:c.964C>T, XM_006720447.1:c.964C>T, XM_047432325.1:c.964C>T, XM_047432324.1:c.964C>T, XM_047432326.1:c.964C>T, NP_031373.2:p.Leu397Phe, NP_001239056.1:p.Leu322Phe, XP_005254321.1:p.Leu322Phe, XP_006720510.1:p.Leu322Phe, XP_047288281.1:p.Leu322Phe, XP_047288280.1:p.Leu322Phe, XP_047288282.1:p.Leu322Phe

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Result Filters

Clinical Significance

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Items: 1 to 20 of 957

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