Canonical Allele Identifier: CA6988619

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 509558
• ClinVar RCV Id: RCV000886974 ; RCV001697571 ; RCV002456342 ; RCV003962765
• dbSNP Id: rs377267217
• ExAC: 13:52513262 C / T
• gnomAD v2: 13-52513262-C-T
• gnomAD v3: 13-51939126-C-T
• gnomAD v4: 13-51939126-C-T
• MyVariant Identifiers: chr13:g.52513262C>T (hg19) ; chr13:g.51939126C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939126C>T , CM000675.2:g.51939126C>T	GRCh38
NC_000013.10:g.52513262C>T , CM000675.1:g.52513262C>T	GRCh37
NC_000013.9:g.51411263C>T	NCBI36
NG_008806.1:g.77369G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1274G>A	ENSP00000489512.2:n.*1274G>A
ENST00000673864.2:c.*2368G>A	ENSP00000501045.2:n.*2368G>A
ENST00000674147.2:c.3003G>A	ENSP00000500964.2:p.Thr1001=
ENST00000242839.10:c.3624G>A MANE Select	ENSP00000242839.5:p.Thr1208=
ENST00000344297.9:c.3003G>A	ENSP00000342559.5:p.Thr1001=
ENST00000400366.6:c.3291G>A	ENSP00000383217.3:p.Thr1097=
ENST00000448424.7:c.3372G>A	ENSP00000416738.3:p.Thr1124=
ENST00000673696.1:n.865G>A
ENST00000673772.1:c.3390G>A	ENSP00000501168.1:p.Thr1130=
ENST00000673867.1:n.3763G>A
ENST00000673923.1:n.490G>A
ENST00000674147.1:c.2559G>A	ENSP00000500964.1:p.Thr853=
ENST00000242839.8:c.3624G>A	ENSP00000242839.4:p.Thr1208=
ENST00000344297.8:c.3003G>A	ENSP00000342559.5:p.Thr1001=
ENST00000400366.5:c.3291G>A	ENSP00000383217.3:p.Thr1097=
ENST00000400370.8:c.2334G>A	ENSP00000383221.3:p.Thr778=
ENST00000418097.7:c.3429G>A	ENSP00000393343.2:p.Thr1143=
ENST00000448424.6:c.3390G>A	ENSP00000416738.2:p.Thr1130=
ENST00000634296.1:c.1402G>A
ENST00000634308.1:c.*725G>A	ENSP00000489234.1:n.*725G>A
ENST00000634620.1:n.4368G>A
ENST00000634810.1:n.2969G>A
ENST00000634844.1:c.3480G>A	ENSP00000489398.1:p.Thr1160=
NM_000053.3:c.3624G>A	NP_000044.2:p.Thr1208=
NM_001005918.2:c.3003G>A	NP_001005918.1:p.Thr1001=
NM_001243182.1:c.3291G>A	NP_001230111.1:p.Thr1097=
XM_005266423.2:c.3528G>A	XP_005266480.1:p.Thr1176=
XM_005266424.3:c.3528G>A	XP_005266481.1:p.Thr1176=
XM_005266427.2:c.3390G>A	XP_005266484.1:p.Thr1130=
XM_005266428.1:c.3372G>A	XP_005266485.1:p.Thr1124=
XM_005266430.3:c.3624G>A	XP_005266487.1:p.Thr1208=
XM_005266431.2:c.3588G>A	XP_005266488.1:p.Thr1196=
XM_005266432.2:c.3138G>A	XP_005266489.1:p.Thr1046=
XM_006719837.2:c.3528G>A	XP_006719900.1:p.Thr1176=
XM_006719838.1:c.1440G>A	XP_006719901.1:p.Thr480=
XM_006719839.1:c.1257G>A	XP_006719902.1:p.Thr419=
XM_011535117.1:c.3528G>A	XP_011533419.1:p.Thr1176=
XM_011535118.1:c.3489G>A	XP_011533420.1:p.Thr1163=
XM_011535119.1:c.3441G>A	XP_011533421.1:p.Thr1147=
XM_011535120.1:c.3210G>A	XP_011533422.1:p.Thr1070=
XM_011535121.1:c.3111G>A	XP_011533423.1:p.Thr1037=
XM_011535122.1:c.2292G>A	XP_011533424.1:p.Thr764=
XR_941601.1:n.3843G>A
XR_941602.1:n.3843G>A
XR_941603.1:n.3843G>A
XR_941604.1:n.3843G>A
NM_001330578.1:c.3390G>A	NP_001317507.1:p.Thr1130=
NM_001330579.1:c.3372G>A	NP_001317508.1:p.Thr1124=
XM_005266424.4:c.3528G>A	XP_005266481.1:p.Thr1176=
XM_005266430.4:c.3624G>A	XP_005266487.1:p.Thr1208=
XM_005266431.4:c.3588G>A	XP_005266488.1:p.Thr1196=
XM_006719837.3:c.3528G>A	XP_006719900.1:p.Thr1176=
XM_011535117.3:c.3528G>A	XP_011533419.1:p.Thr1176=
XM_017020627.1:c.3528G>A	XP_016876116.1:p.Thr1176=
NM_000053.4:c.3624G>A MANE Select	NP_000044.2:p.Thr1208=
NM_001005918.3:c.3003G>A	NP_001005918.1:p.Thr1001=
NM_001330579.2:c.3372G>A	NP_001317508.1:p.Thr1124=
NM_001243182.2:c.3291G>A	NP_001230111.1:p.Thr1097=
NM_001330578.2:c.3390G>A	NP_001317507.1:p.Thr1130=