SNP Links for Protein (Select 578838460) - SNP

Links from Protein

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Select item 14907156291.

rs1490715629 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:106036556 (GRCh38)
X:105280547 (GRCh37)
Canonical SPDI:: NC_000023.11:106036555:G:A
Gene:: SERPINA7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.106036556G>A, NC_000023.10:g.105280547G>A, NG_021252.1:g.7172C>T, NM_000354.6:c.503C>T, NM_000354.5:c.503C>T, XM_005262180.5:c.503C>T, XM_005262180.4:c.503C>T, XM_005262180.3:c.503C>T, XM_005262180.2:c.503C>T, XM_005262180.1:c.503C>T, XM_006724683.3:c.503C>T, XM_006724683.2:c.503C>T, XM_006724683.1:c.503C>T, NP_000345.2:p.Ala168Val, XP_005262237.1:p.Ala168Val, XP_006724746.1:p.Ala168Val

Select item 14812161782.

rs1481216178 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:106033553 (GRCh38)
X:105277544 (GRCh37)
Canonical SPDI:: NC_000023.11:106033552:T:G
Gene:: SERPINA7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.106033553T>G, NC_000023.10:g.105277544T>G, NG_021252.1:g.10175A>C, NM_000354.6:c.1195A>C, NM_000354.5:c.1195A>C, XM_005262180.5:c.*140A>C, XM_005262180.4:c.*140A>C, XM_006724683.3:c.1225A>C, XM_006724683.2:c.1225A>C, XM_006724683.1:c.1225A>C, NP_000345.2:p.Ser399Arg, XP_006724746.1:p.Ser409Arg

Select item 14810020013.

rs1481002001 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:106036539 (GRCh38)
X:105280530 (GRCh37)
Canonical SPDI:: NC_000023.11:106036538:T:C
Gene:: SERPINA7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.106036539T>C, NC_000023.10:g.105280530T>C, NG_021252.1:g.7189A>G, NM_000354.6:c.520A>G, NM_000354.5:c.520A>G, XM_005262180.5:c.520A>G, XM_005262180.4:c.520A>G, XM_005262180.3:c.520A>G, XM_005262180.2:c.520A>G, XM_005262180.1:c.520A>G, XM_006724683.3:c.520A>G, XM_006724683.2:c.520A>G, XM_006724683.1:c.520A>G, NP_000345.2:p.Asn174Asp, XP_005262237.1:p.Asn174Asp, XP_006724746.1:p.Asn174Asp

Select item 14805348834.

rs1480534883 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: X:106035202 (GRCh38)
X:105279193 (GRCh37)
Canonical SPDI:: NC_000023.11:106035200:AAA:A
Gene:: SERPINA7 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.106035202_106035203del, NC_000023.10:g.105279193_105279194del, NG_021252.1:g.8526_8527del, NM_000354.6:c.806_807del, NM_000354.5:c.806_807del, XM_005262180.5:c.806_807del, XM_005262180.4:c.806_807del, XM_005262180.3:c.806_807del, XM_005262180.2:c.806_807del, XM_005262180.1:c.806_807del, XM_006724683.3:c.806_807del, XM_006724683.2:c.806_807del, XM_006724683.1:c.806_807del, NP_000345.2:p.Phe269fs, XP_005262237.1:p.Phe269fs, XP_006724746.1:p.Phe269fs

Select item 14725019985.

rs1472501998 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:106036949 (GRCh38)
X:105280940 (GRCh37)
Canonical SPDI:: NC_000023.11:106036948:G:A
Gene:: SERPINA7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000023.11:g.106036949G>A, NC_000023.10:g.105280940G>A, NG_021252.1:g.6779C>T, NM_000354.6:c.110C>T, NM_000354.5:c.110C>T, XM_005262180.5:c.110C>T, XM_005262180.4:c.110C>T, XM_005262180.3:c.110C>T, XM_005262180.2:c.110C>T, XM_005262180.1:c.110C>T, XM_006724683.3:c.110C>T, XM_006724683.2:c.110C>T, XM_006724683.1:c.110C>T, NP_000345.2:p.Ala37Val, XP_005262237.1:p.Ala37Val, XP_006724746.1:p.Ala37Val

Select item 14707611966.

rs1470761196 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:106033662 (GRCh38)
X:105277653 (GRCh37)
Canonical SPDI:: NC_000023.11:106033661:A:T
Gene:: SERPINA7 (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.106033662A>T, NC_000023.10:g.105277653A>T, NG_021252.1:g.10066T>A, NM_000354.6:c.1086T>A, NM_000354.5:c.1086T>A, XM_005262180.5:c.*31T>A, XM_005262180.4:c.*31T>A, XM_005262180.3:c.*31T>A, XM_005262180.2:c.*31T>A, XM_006724683.3:c.1116T>A, XM_006724683.2:c.1116T>A, XM_006724683.1:c.1116T>A

Select item 14707262357.

rs1470726235 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:106036672 (GRCh38)
X:105280663 (GRCh37)
Canonical SPDI:: NC_000023.11:106036671:C:A,NC_000023.11:106036671:C:T
Gene:: SERPINA7 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.106036672C>A, NC_000023.11:g.106036672C>T, NC_000023.10:g.105280663C>A, NC_000023.10:g.105280663C>T, NG_021252.1:g.7056G>T, NG_021252.1:g.7056G>A, NM_000354.6:c.387G>T, NM_000354.6:c.387G>A, NM_000354.5:c.387G>T, NM_000354.5:c.387G>A, XM_005262180.5:c.387G>T, XM_005262180.5:c.387G>A, XM_005262180.4:c.387G>T, XM_005262180.4:c.387G>A, XM_005262180.3:c.387G>T, XM_005262180.3:c.387G>A, XM_005262180.2:c.387G>T, XM_005262180.2:c.387G>A, XM_005262180.1:c.387G>T, XM_005262180.1:c.387G>A, XM_006724683.3:c.387G>T, XM_006724683.3:c.387G>A, XM_006724683.2:c.387G>T, XM_006724683.2:c.387G>A, XM_006724683.1:c.387G>T, XM_006724683.1:c.387G>A, NP_000345.2:p.Gln129His, XP_005262237.1:p.Gln129His, XP_006724746.1:p.Gln129His

Select item 14699355298.

rs1469935529 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:106036462 (GRCh38)
X:105280453 (GRCh37)
Canonical SPDI:: NC_000023.11:106036461:G:C
Gene:: SERPINA7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.106036462G>C, NC_000023.10:g.105280453G>C, NG_021252.1:g.7266C>G, NM_000354.6:c.597C>G, NM_000354.5:c.597C>G, XM_005262180.5:c.597C>G, XM_005262180.4:c.597C>G, XM_005262180.3:c.597C>G, XM_005262180.2:c.597C>G, XM_005262180.1:c.597C>G, XM_006724683.3:c.597C>G, XM_006724683.2:c.597C>G, XM_006724683.1:c.597C>G

Select item 14684876179.

rs1468487617 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:106035353 (GRCh38)
X:105279344 (GRCh37)
Canonical SPDI:: NC_000023.11:106035352:T:C
Gene:: SERPINA7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000023.11:g.106035353T>C, NC_000023.10:g.105279344T>C, NG_021252.1:g.8375A>G, NM_000354.6:c.655A>G, NM_000354.5:c.655A>G, XM_005262180.5:c.655A>G, XM_005262180.4:c.655A>G, XM_005262180.3:c.655A>G, XM_005262180.2:c.655A>G, XM_005262180.1:c.655A>G, XM_006724683.3:c.655A>G, XM_006724683.2:c.655A>G, XM_006724683.1:c.655A>G, NP_000345.2:p.Thr219Ala, XP_005262237.1:p.Thr219Ala, XP_006724746.1:p.Thr219Ala

Select item 146804810510.

rs1468048105 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:106036478 (GRCh38)
X:105280469 (GRCh37)
Canonical SPDI:: NC_000023.11:106036477:G:A
Gene:: SERPINA7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000023.11:g.106036478G>A, NC_000023.10:g.105280469G>A, NG_021252.1:g.7250C>T, NM_000354.6:c.581C>T, NM_000354.5:c.581C>T, XM_005262180.5:c.581C>T, XM_005262180.4:c.581C>T, XM_005262180.3:c.581C>T, XM_005262180.2:c.581C>T, XM_005262180.1:c.581C>T, XM_006724683.3:c.581C>T, XM_006724683.2:c.581C>T, XM_006724683.1:c.581C>T, NP_000345.2:p.Pro194Leu, XP_005262237.1:p.Pro194Leu, XP_006724746.1:p.Pro194Leu

Select item 146705926411.

rs1467059264 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:106037010 (GRCh38)
X:105281001 (GRCh37)
Canonical SPDI:: NC_000023.11:106037009:T:C
Gene:: SERPINA7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.106037010T>C, NC_000023.10:g.105281001T>C, NG_021252.1:g.6718A>G, NM_000354.6:c.49A>G, NM_000354.5:c.49A>G, XM_005262180.5:c.49A>G, XM_005262180.4:c.49A>G, XM_005262180.3:c.49A>G, XM_005262180.2:c.49A>G, XM_005262180.1:c.49A>G, XM_006724683.3:c.49A>G, XM_006724683.2:c.49A>G, XM_006724683.1:c.49A>G, NP_000345.2:p.Thr17Ala, XP_005262237.1:p.Thr17Ala, XP_006724746.1:p.Thr17Ala

Select item 146455983812.

rs1464559838 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:106035348 (GRCh38)
X:105279339 (GRCh37)
Canonical SPDI:: NC_000023.11:106035347:T:C
Gene:: SERPINA7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.106035348T>C, NC_000023.10:g.105279339T>C, NG_021252.1:g.8380A>G, NM_000354.6:c.660A>G, NM_000354.5:c.660A>G, XM_005262180.5:c.660A>G, XM_005262180.4:c.660A>G, XM_005262180.3:c.660A>G, XM_005262180.2:c.660A>G, XM_005262180.1:c.660A>G, XM_006724683.3:c.660A>G, XM_006724683.2:c.660A>G, XM_006724683.1:c.660A>G

Select item 146197101713.

rs1461971017 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:106035232 (GRCh38)
X:105279223 (GRCh37)
Canonical SPDI:: NC_000023.11:106035231:A:G
Gene:: SERPINA7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.106035232A>G, NC_000023.10:g.105279223A>G, NG_021252.1:g.8496T>C, NM_000354.6:c.776T>C, NM_000354.5:c.776T>C, XM_005262180.5:c.776T>C, XM_005262180.4:c.776T>C, XM_005262180.3:c.776T>C, XM_005262180.2:c.776T>C, XM_005262180.1:c.776T>C, XM_006724683.3:c.776T>C, XM_006724683.2:c.776T>C, XM_006724683.1:c.776T>C, NP_000345.2:p.Met259Thr, XP_005262237.1:p.Met259Thr, XP_006724746.1:p.Met259Thr

Select item 146078403214.

rs1460784032 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:106036844 (GRCh38)
X:105280835 (GRCh37)
Canonical SPDI:: NC_000023.11:106036843:C:A,NC_000023.11:106036843:C:T
Gene:: SERPINA7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.106036844C>A, NC_000023.11:g.106036844C>T, NC_000023.10:g.105280835C>A, NC_000023.10:g.105280835C>T, NG_021252.1:g.6884G>T, NG_021252.1:g.6884G>A, NM_000354.6:c.215G>T, NM_000354.6:c.215G>A, NM_000354.5:c.215G>T, NM_000354.5:c.215G>A, XM_005262180.5:c.215G>T, XM_005262180.5:c.215G>A, XM_005262180.4:c.215G>T, XM_005262180.4:c.215G>A, XM_005262180.3:c.215G>T, XM_005262180.3:c.215G>A, XM_005262180.2:c.215G>T, XM_005262180.2:c.215G>A, XM_005262180.1:c.215G>T, XM_005262180.1:c.215G>A, XM_006724683.3:c.215G>T, XM_006724683.3:c.215G>A, XM_006724683.2:c.215G>T, XM_006724683.2:c.215G>A, XM_006724683.1:c.215G>T, XM_006724683.1:c.215G>A, NP_000345.2:p.Ser72Ile, NP_000345.2:p.Ser72Asn, XP_005262237.1:p.Ser72Ile, XP_005262237.1:p.Ser72Asn, XP_006724746.1:p.Ser72Ile, XP_006724746.1:p.Ser72Asn

Select item 146026533715.

rs1460265337 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:106036439 (GRCh38)
X:105280430 (GRCh37)
Canonical SPDI:: NC_000023.11:106036438:T:C
Gene:: SERPINA7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.106036439T>C, NC_000023.10:g.105280430T>C, NG_021252.1:g.7289A>G, NM_000354.6:c.620A>G, NM_000354.5:c.620A>G, XM_005262180.5:c.620A>G, XM_005262180.4:c.620A>G, XM_005262180.3:c.620A>G, XM_005262180.2:c.620A>G, XM_005262180.1:c.620A>G, XM_006724683.3:c.620A>G, XM_006724683.2:c.620A>G, XM_006724683.1:c.620A>G, NP_000345.2:p.Lys207Arg, XP_005262237.1:p.Lys207Arg, XP_006724746.1:p.Lys207Arg

Select item 144890489416.

rs1448904894 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:106034310 (GRCh38)
X:105278301 (GRCh37)
Canonical SPDI:: NC_000023.11:106034309:C:T
Gene:: SERPINA7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.106034310C>T, NC_000023.10:g.105278301C>T, NG_021252.1:g.9418G>A, NM_000354.6:c.969G>A, NM_000354.5:c.969G>A, XM_005262180.5:c.969G>A, XM_005262180.4:c.969G>A, XM_005262180.3:c.969G>A, XM_005262180.2:c.969G>A, XM_005262180.1:c.969G>A, XM_006724683.3:c.969G>A, XM_006724683.2:c.969G>A, XM_006724683.1:c.969G>A, NP_000345.2:p.Met323Ile, XP_005262237.1:p.Met323Ile, XP_006724746.1:p.Met323Ile

Select item 144713643617.

rs1447136436 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:106033557 (GRCh38)
X:105277548 (GRCh37)
Canonical SPDI:: NC_000023.11:106033556:C:A
Gene:: SERPINA7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.106033557C>A, NC_000023.10:g.105277548C>A, NG_021252.1:g.10171G>T, NM_000354.6:c.1191G>T, NM_000354.5:c.1191G>T, XM_005262180.5:c.*136G>T, XM_005262180.4:c.*136G>T, XM_006724683.3:c.1221G>T, XM_006724683.2:c.1221G>T, XM_006724683.1:c.1221G>T, NP_000345.2:p.Glu397Asp, XP_006724746.1:p.Glu407Asp

Select item 144349181918.

rs1443491819 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:106036767 (GRCh38)
X:105280758 (GRCh37)
Canonical SPDI:: NC_000023.11:106036766:A:G
Gene:: SERPINA7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.106036767A>G, NC_000023.10:g.105280758A>G, NG_021252.1:g.6961T>C, NM_000354.6:c.292T>C, NM_000354.5:c.292T>C, XM_005262180.5:c.292T>C, XM_005262180.4:c.292T>C, XM_005262180.3:c.292T>C, XM_005262180.2:c.292T>C, XM_005262180.1:c.292T>C, XM_006724683.3:c.292T>C, XM_006724683.2:c.292T>C, XM_006724683.1:c.292T>C, NP_000345.2:p.Phe98Leu, XP_005262237.1:p.Phe98Leu, XP_006724746.1:p.Phe98Leu

Select item 143905045919.

rs1439050459 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:106035185 (GRCh38)
X:105279176 (GRCh37)
Canonical SPDI:: NC_000023.11:106035184:C:A
Gene:: SERPINA7 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.106035185C>A, NC_000023.10:g.105279176C>A, NG_021252.1:g.8543G>T, NM_000354.6:c.823G>T, NM_000354.5:c.823G>T, XM_005262180.5:c.823G>T, XM_005262180.4:c.823G>T, XM_005262180.3:c.823G>T, XM_005262180.2:c.823G>T, XM_005262180.1:c.823G>T, XM_006724683.3:c.823G>T, XM_006724683.2:c.823G>T, XM_006724683.1:c.823G>T, NP_000345.2:p.Gly275Ter, XP_005262237.1:p.Gly275Ter, XP_006724746.1:p.Gly275Ter

Select item 143613617920.

rs1436136179 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:106036972 (GRCh38)
X:105280963 (GRCh37)
Canonical SPDI:: NC_000023.11:106036971:G:T
Gene:: SERPINA7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.106036972G>T, NC_000023.10:g.105280963G>T, NG_021252.1:g.6756C>A, NM_000354.6:c.87C>A, NM_000354.5:c.87C>A, XM_005262180.5:c.87C>A, XM_005262180.4:c.87C>A, XM_005262180.3:c.87C>A, XM_005262180.2:c.87C>A, XM_005262180.1:c.87C>A, XM_006724683.3:c.87C>A, XM_006724683.2:c.87C>A, XM_006724683.1:c.87C>A

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