SNP Links for Protein (Select 4505731) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 346

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Select item 14889264991.

rs1488926499 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:136869967 (GRCh38)
6:137191105 (GRCh37)
Canonical SPDI:: NC_000006.12:136869966:A:G
Gene:: PEX7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.136869967A>G, NC_000006.11:g.137191105A>G, NG_008462.1:g.52388A>G, NM_000288.4:c.711A>G, NM_000288.3:c.711A>G, NM_001410945.1:c.597A>G, XM_005267019.5:c.597A>G, XM_006715502.3:c.417A>G, XM_006715502.2:c.417A>G, XM_006715502.1:c.417A>G

Select item 14873686082.

rs1487368608 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:136826336 (GRCh38)
6:137147474 (GRCh37)
Canonical SPDI:: NC_000006.12:136826335:G:A
Gene:: PEX7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.136826336G>A, NC_000006.11:g.137147474G>A, NG_008462.1:g.8757G>A, NM_000288.4:c.206G>A, NM_000288.3:c.206G>A, NM_001410945.1:c.92G>A, XM_005267019.5:c.92G>A, XM_006715502.3:c.206G>A, XM_006715502.2:c.206G>A, XM_006715502.1:c.206G>A, XM_047418874.1:c.206G>A, NP_000279.1:p.Gly69Asp, XP_005267076.1:p.Gly31Asp, XP_006715565.1:p.Gly69Asp, XP_047274830.1:p.Gly69Asp

Select item 14868685713.

rs1486868571 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:136898189 (GRCh38)
6:137219327 (GRCh37)
Canonical SPDI:: NC_000006.12:136898188:A:G
Gene:: PEX7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.136898189A>G, NC_000006.11:g.137219327A>G, NG_008462.1:g.80610A>G, NM_000288.4:c.851A>G, NM_000288.3:c.851A>G, NM_001410945.1:c.737A>G, XM_005267019.5:c.737A>G, XM_006715502.3:c.557A>G, XM_006715502.2:c.557A>G, XM_006715502.1:c.557A>G, XM_047418874.1:c.574A>G, NP_000279.1:p.His284Arg, XP_005267076.1:p.His246Arg, XP_006715565.1:p.His186Arg, XP_047274830.1:p.Ile192Val

Select item 14807253304.

rs1480725330 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:136822795 (GRCh38)
6:137143933 (GRCh37)
Canonical SPDI:: NC_000006.12:136822794:G:A
Gene:: PEX7 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.136822795G>A, NC_000006.11:g.137143933G>A, NG_008462.1:g.5216G>A, NM_000288.4:c.130G>A, NM_000288.3:c.130G>A, XM_006715502.3:c.130G>A, XM_006715502.2:c.130G>A, XM_006715502.1:c.130G>A, XM_047418874.1:c.130G>A, NP_000279.1:p.Gly44Ser, XP_006715565.1:p.Gly44Ser, XP_047274830.1:p.Gly44Ser

Select item 14782444955.

rs1478244495 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:136866722 (GRCh38)
6:137187860 (GRCh37)
Canonical SPDI:: NC_000006.12:136866721:A:G
Gene:: PEX7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.136866722A>G, NC_000006.11:g.137187860A>G, NG_008462.1:g.49143A>G, NM_000288.4:c.622A>G, NM_000288.3:c.622A>G, NM_001410945.1:c.508A>G, XM_005267019.5:c.508A>G, NP_000279.1:p.Lys208Glu, XP_005267076.1:p.Lys170Glu

Select item 14759598446.

rs1475959844 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:136822674 (GRCh38)
6:137143812 (GRCh37)
Canonical SPDI:: NC_000006.12:136822673:G:A,NC_000006.12:136822673:G:C
Gene:: PEX7 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.136822674G>A, NC_000006.12:g.136822674G>C, NC_000006.11:g.137143812G>A, NC_000006.11:g.137143812G>C, NG_008462.1:g.5095G>A, NG_008462.1:g.5095G>C, NM_000288.4:c.9G>A, NM_000288.4:c.9G>C, NM_000288.3:c.9G>A, NM_000288.3:c.9G>C, XM_006715502.3:c.9G>A, XM_006715502.3:c.9G>C, XM_006715502.2:c.9G>A, XM_006715502.2:c.9G>C, XM_006715502.1:c.9G>A, XM_006715502.1:c.9G>C, XM_047418874.1:c.9G>A, XM_047418874.1:c.9G>C

Select item 14744968447.

rs1474496844 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:136845637 (GRCh38)
6:137166775 (GRCh37)
Canonical SPDI:: NC_000006.12:136845636:A:G
Gene:: PEX7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.136845637A>G, NC_000006.11:g.137166775A>G, NG_008462.1:g.28058A>G, NM_000288.4:c.362A>G, NM_000288.3:c.362A>G, NM_001410945.1:c.248A>G, XM_005267019.5:c.248A>G, XM_047418874.1:c.362A>G, NP_000279.1:p.Gln121Arg, XP_005267076.1:p.Gln83Arg, XP_047274830.1:p.Gln121Arg

Select item 14721298668.

rs1472129866 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:136825230 (GRCh38)
6:137146368 (GRCh37)
Canonical SPDI:: NC_000006.12:136825229:A:G
Gene:: PEX7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.136825230A>G, NC_000006.11:g.137146368A>G, NG_008462.1:g.7651A>G, NM_000288.4:c.147A>G, NM_000288.3:c.147A>G, NM_001410945.1:c.33A>G, XM_005267019.5:c.33A>G, XM_006715502.3:c.147A>G, XM_006715502.2:c.147A>G, XM_006715502.1:c.147A>G, XM_047418874.1:c.147A>G

Select item 14696548069.

rs1469654806 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:136822735 (GRCh38)
6:137143873 (GRCh37)
Canonical SPDI:: NC_000006.12:136822734:T:C,NC_000006.12:136822734:T:G
Gene:: PEX7 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00011/2 (TOMMO)
HGVS:: NC_000006.12:g.136822735T>C, NC_000006.12:g.136822735T>G, NC_000006.11:g.137143873T>C, NC_000006.11:g.137143873T>G, NG_008462.1:g.5156T>C, NG_008462.1:g.5156T>G, NM_000288.4:c.70T>C, NM_000288.4:c.70T>G, NM_000288.3:c.70T>C, NM_000288.3:c.70T>G, XM_006715502.3:c.70T>C, XM_006715502.3:c.70T>G, XM_006715502.2:c.70T>C, XM_006715502.2:c.70T>G, XM_006715502.1:c.70T>C, XM_006715502.1:c.70T>G, XM_047418874.1:c.70T>C, XM_047418874.1:c.70T>G, NP_000279.1:p.Phe24Leu, NP_000279.1:p.Phe24Val, XP_006715565.1:p.Phe24Leu, XP_006715565.1:p.Phe24Val, XP_047274830.1:p.Phe24Leu, XP_047274830.1:p.Phe24Val

Select item 146735782810.

rs1467357828 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:136898173 (GRCh38)
6:137219311 (GRCh37)
Canonical SPDI:: NC_000006.12:136898172:C:A,NC_000006.12:136898172:C:T
Gene:: PEX7 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.136898173C>A, NC_000006.12:g.136898173C>T, NC_000006.11:g.137219311C>A, NC_000006.11:g.137219311C>T, NG_008462.1:g.80594C>A, NG_008462.1:g.80594C>T, NM_000288.4:c.835C>A, NM_000288.4:c.835C>T, NM_000288.3:c.835C>A, NM_000288.3:c.835C>T, NM_001410945.1:c.721C>A, NM_001410945.1:c.721C>T, XM_005267019.5:c.721C>A, XM_005267019.5:c.721C>T, XM_006715502.3:c.541C>A, XM_006715502.3:c.541C>T, XM_006715502.2:c.541C>A, XM_006715502.2:c.541C>T, XM_006715502.1:c.541C>A, XM_006715502.1:c.541C>T, XM_047418874.1:c.558C>A, XM_047418874.1:c.558C>T, NP_000279.1:p.Leu279Ile, NP_000279.1:p.Leu279Phe, XP_005267076.1:p.Leu241Ile, XP_005267076.1:p.Leu241Phe, XP_006715565.1:p.Leu181Ile, XP_006715565.1:p.Leu181Phe, XP_047274830.1:p.Phe186Leu

Select item 146636820111.

rs1466368201 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:136866730 (GRCh38)
6:137187868 (GRCh37)
Canonical SPDI:: NC_000006.12:136866729:T:C
Gene:: PEX7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Clinical significance:: likely-benign,uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000026/7 (TOPMED)
C=0.000043/6 (GnomAD)
HGVS:: NC_000006.12:g.136866730T>C, NC_000006.11:g.137187868T>C, NG_008462.1:g.49151T>C, NM_000288.4:c.630T>C, NM_000288.3:c.630T>C, NM_001410945.1:c.516T>C, XM_005267019.5:c.516T>C

Select item 146476632712.

rs1464766327 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 6:136898142 (GRCh38)
6:137219281 (GRCh37)
Canonical SPDI:: NC_000006.12:136898142:TT:TTT
Gene:: PEX7 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Clinical significance:: likely-pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.136898144dup, NC_000006.11:g.137219282dup, NG_008462.1:g.80565dup, NM_000288.4:c.806dup, NM_000288.3:c.806dup, NM_001410945.1:c.692dup, XM_005267019.5:c.692dup, XM_006715502.3:c.512dup, XM_006715502.2:c.512dup, XM_006715502.1:c.512dup, XM_047418874.1:c.529dup, NP_000279.1:p.Trp270fs, XP_005267076.1:p.Trp232fs, XP_006715565.1:p.Trp172fs, XP_047274830.1:p.Ser177fs

Select item 146474180313.

rs1464741803 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:136822791 (GRCh38)
6:137143929 (GRCh37)
Canonical SPDI:: NC_000006.12:136822790:C:G,NC_000006.12:136822790:C:T
Gene:: PEX7 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Clinical significance:: likely-benign,uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000059/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.136822791C>G, NC_000006.12:g.136822791C>T, NC_000006.11:g.137143929C>G, NC_000006.11:g.137143929C>T, NG_008462.1:g.5212C>G, NG_008462.1:g.5212C>T, NM_000288.4:c.126C>G, NM_000288.4:c.126C>T, NM_000288.3:c.126C>G, NM_000288.3:c.126C>T, XM_006715502.3:c.126C>G, XM_006715502.3:c.126C>T, XM_006715502.2:c.126C>G, XM_006715502.2:c.126C>T, XM_006715502.1:c.126C>G, XM_006715502.1:c.126C>T, XM_047418874.1:c.126C>G, XM_047418874.1:c.126C>T, NP_000279.1:p.Ile42Met, XP_006715565.1:p.Ile42Met, XP_047274830.1:p.Ile42Met

Select item 146467660214.

rs1464676602 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:136825236 (GRCh38)
6:137146374 (GRCh37)
Canonical SPDI:: NC_000006.12:136825235:G:A
Gene:: PEX7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.136825236G>A, NC_000006.11:g.137146374G>A, NG_008462.1:g.7657G>A, NM_000288.4:c.153G>A, NM_000288.3:c.153G>A, NM_001410945.1:c.39G>A, XM_005267019.5:c.39G>A, XM_006715502.3:c.153G>A, XM_006715502.2:c.153G>A, XM_006715502.1:c.153G>A, XM_047418874.1:c.153G>A

Select item 145959133715.

rs1459591337 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:136898221 (GRCh38)
6:137219359 (GRCh37)
Canonical SPDI:: NC_000006.12:136898220:A:C,NC_000006.12:136898220:A:G
Gene:: PEX7 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.136898221A>C, NC_000006.12:g.136898221A>G, NC_000006.11:g.137219359A>C, NC_000006.11:g.137219359A>G, NG_008462.1:g.80642A>C, NG_008462.1:g.80642A>G, NM_000288.4:c.883A>C, NM_000288.4:c.883A>G, NM_000288.3:c.883A>C, NM_000288.3:c.883A>G, NM_001410945.1:c.769A>C, NM_001410945.1:c.769A>G, XM_005267019.5:c.769A>C, XM_005267019.5:c.769A>G, XM_006715502.3:c.589A>C, XM_006715502.3:c.589A>G, XM_006715502.2:c.589A>C, XM_006715502.2:c.589A>G, XM_006715502.1:c.589A>C, XM_006715502.1:c.589A>G, XM_047418874.1:c.*6A>C, XM_047418874.1:c.*6A>G, NP_000279.1:p.Ser295Arg, NP_000279.1:p.Ser295Gly, XP_005267076.1:p.Ser257Arg, XP_005267076.1:p.Ser257Gly, XP_006715565.1:p.Ser197Arg, XP_006715565.1:p.Ser197Gly

Select item 145901975216.

rs1459019752 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:136822752 (GRCh38)
6:137143890 (GRCh37)
Canonical SPDI:: NC_000006.12:136822751:G:A,NC_000006.12:136822751:G:C
Gene:: PEX7 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.136822752G>A, NC_000006.12:g.136822752G>C, NC_000006.11:g.137143890G>A, NC_000006.11:g.137143890G>C, NG_008462.1:g.5173G>A, NG_008462.1:g.5173G>C, NM_000288.4:c.87G>A, NM_000288.4:c.87G>C, NM_000288.3:c.87G>A, NM_000288.3:c.87G>C, XM_006715502.3:c.87G>A, XM_006715502.3:c.87G>C, XM_006715502.2:c.87G>A, XM_006715502.2:c.87G>C, XM_006715502.1:c.87G>A, XM_006715502.1:c.87G>C, XM_047418874.1:c.87G>A, XM_047418874.1:c.87G>C

Select item 145600734917.

rs1456007349 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 6:136826423 (GRCh38)
6:137147561 (GRCh37)
Canonical SPDI:: NC_000006.12:136826422:CC:C
Gene:: PEX7 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Clinical significance:: pathogenic
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.136826424del, NC_000006.11:g.137147562del, NG_008462.1:g.8845del, NM_000288.4:c.294del, NM_000288.3:c.294del, NM_001410945.1:c.180del, XM_005267019.5:c.180del, XM_006715502.3:c.294del, XM_006715502.2:c.294del, XM_006715502.1:c.294del, XM_047418874.1:c.294del, NP_000279.1:p.Ala100fs, XP_005267076.1:p.Ala62fs, XP_006715565.1:p.Ala100fs, XP_047274830.1:p.Ala100fs

Select item 145261161818.

rs1452611618 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 6:136872247 (GRCh38)
6:137193385 (GRCh37)
Canonical SPDI:: NC_000006.12:136872246:C:G,NC_000006.12:136872246:C:T
Gene:: PEX7 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.136872247C>G, NC_000006.12:g.136872247C>T, NC_000006.11:g.137193385C>G, NC_000006.11:g.137193385C>T, NG_008462.1:g.54668C>G, NG_008462.1:g.54668C>T, NM_000288.4:c.797C>G, NM_000288.4:c.797C>T, NM_000288.3:c.797C>G, NM_000288.3:c.797C>T, NM_001410945.1:c.683C>G, NM_001410945.1:c.683C>T, XM_005267019.5:c.683C>G, XM_005267019.5:c.683C>T, XM_006715502.3:c.503C>G, XM_006715502.3:c.503C>T, XM_006715502.2:c.503C>G, XM_006715502.2:c.503C>T, XM_006715502.1:c.503C>G, XM_006715502.1:c.503C>T, NP_000279.1:p.Thr266Ser, NP_000279.1:p.Thr266Ile, XP_005267076.1:p.Thr228Ser, XP_005267076.1:p.Thr228Ile, XP_006715565.1:p.Thr168Ser, XP_006715565.1:p.Thr168Ile

Select item 144095381219.

rs1440953812 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:136846177 (GRCh38)
6:137167315 (GRCh37)
Canonical SPDI:: NC_000006.12:136846176:C:T
Gene:: PEX7 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.136846177C>T, NC_000006.11:g.137167315C>T, NG_008462.1:g.28598C>T, NM_000288.4:c.522C>T, NM_000288.3:c.522C>T, NM_001410945.1:c.408C>T, XM_005267019.5:c.408C>T, XM_047418874.1:c.522C>T

Select item 143981686120.

rs1439816861 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:136869934 (GRCh38)
6:137191072 (GRCh37)
Canonical SPDI:: NC_000006.12:136869933:G:A
Gene:: PEX7 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,stop_gained
HGVS:: NC_000006.12:g.136869934G>A, NC_000006.11:g.137191072G>A, NG_008462.1:g.52355G>A, NM_000288.4:c.678G>A, NM_000288.3:c.678G>A, NM_001410945.1:c.564G>A, XM_005267019.5:c.564G>A, XM_006715502.3:c.384G>A, XM_006715502.2:c.384G>A, XM_006715502.1:c.384G>A, NP_000279.1:p.Trp226Ter, XP_005267076.1:p.Trp188Ter, XP_006715565.1:p.Trp128Ter

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