Canonical Allele Identifier: CA250073562

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1109908
• ClinVar RCV Id: RCV001435974
• dbSNP Id: rs978231751
• gnomAD v2: 13-52511639-G-A
• gnomAD v3: 13-51937503-G-A
• gnomAD v4: 13-51937503-G-A
• MyVariant Identifiers: chr13:g.52511639G>A (hg19) ; chr13:g.51937503G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937503G>A , CM000675.2:g.51937503G>A	GRCh38
NC_000013.10:g.52511639G>A , CM000675.1:g.52511639G>A	GRCh37
NC_000013.9:g.51409640G>A	NCBI36
NG_008806.1:g.78992C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1526C>T	ENSP00000489512.2:n.*1526C>T
ENST00000673864.2:c.*2620C>T	ENSP00000501045.2:n.*2620C>T
ENST00000674147.2:c.3255C>T	ENSP00000500964.2:p.Ile1085=
ENST00000242839.10:c.3876C>T MANE Select	ENSP00000242839.5:p.Ile1292=
ENST00000344297.9:c.3255C>T	ENSP00000342559.5:p.Ile1085=
ENST00000400366.6:c.3543C>T	ENSP00000383217.3:p.Ile1181=
ENST00000448424.7:c.3624C>T	ENSP00000416738.3:p.Ile1208=
ENST00000673696.1:n.1117C>T
ENST00000673772.1:c.3642C>T	ENSP00000501168.1:p.Ile1214=
ENST00000673867.1:n.4015C>T
ENST00000673923.1:n.742C>T
ENST00000674147.1:c.2811C>T	ENSP00000500964.1:p.Ile937=
ENST00000242839.8:c.3876C>T	ENSP00000242839.4:p.Ile1292=
ENST00000344297.8:c.3255C>T	ENSP00000342559.5:p.Ile1085=
ENST00000400366.5:c.3543C>T	ENSP00000383217.3:p.Ile1181=
ENST00000400370.8:c.2586C>T	ENSP00000383221.3:p.Ile862=
ENST00000418097.7:c.3681C>T	ENSP00000393343.2:p.Ile1227=
ENST00000448424.6:c.3642C>T	ENSP00000416738.2:p.Ile1214=
ENST00000634296.1:c.1654C>T
ENST00000634308.1:c.*977C>T	ENSP00000489234.1:n.*977C>T
ENST00000634620.1:n.4620C>T
ENST00000634810.1:n.3221C>T
ENST00000634844.1:c.3732C>T	ENSP00000489398.1:p.Ile1244=
NM_000053.3:c.3876C>T	NP_000044.2:p.Ile1292=
NM_001005918.2:c.3255C>T	NP_001005918.1:p.Ile1085=
NM_001243182.1:c.3543C>T	NP_001230111.1:p.Ile1181=
XM_005266423.2:c.3780C>T	XP_005266480.1:p.Ile1260=
XM_005266424.3:c.3780C>T	XP_005266481.1:p.Ile1260=
XM_005266427.2:c.3642C>T	XP_005266484.1:p.Ile1214=
XM_005266428.1:c.3624C>T	XP_005266485.1:p.Ile1208=
XM_005266430.3:c.3876C>T	XP_005266487.1:p.Ile1292=
XM_005266431.2:c.3840C>T	XP_005266488.1:p.Ile1280=
XM_005266432.2:c.3390C>T	XP_005266489.1:p.Ile1130=
XM_006719837.2:c.3780C>T	XP_006719900.1:p.Ile1260=
XM_006719838.1:c.1692C>T	XP_006719901.1:p.Ile564=
XM_006719839.1:c.1509C>T	XP_006719902.1:p.Ile503=
XM_011535117.1:c.3780C>T	XP_011533419.1:p.Ile1260=
XM_011535118.1:c.3741C>T	XP_011533420.1:p.Ile1247=
XM_011535119.1:c.3693C>T	XP_011533421.1:p.Ile1231=
XM_011535120.1:c.3462C>T	XP_011533422.1:p.Ile1154=
XM_011535121.1:c.3363C>T	XP_011533423.1:p.Ile1121=
XM_011535122.1:c.2544C>T	XP_011533424.1:p.Ile848=
XR_941601.1:n.4095C>T
XR_941602.1:n.4095C>T
XR_941603.1:n.4095C>T
XR_941604.1:n.4095C>T
NM_001330578.1:c.3642C>T	NP_001317507.1:p.Ile1214=
NM_001330579.1:c.3624C>T	NP_001317508.1:p.Ile1208=
XM_005266424.4:c.3780C>T	XP_005266481.1:p.Ile1260=
XM_005266430.4:c.3876C>T	XP_005266487.1:p.Ile1292=
XM_005266431.4:c.3840C>T	XP_005266488.1:p.Ile1280=
XM_006719837.3:c.3780C>T	XP_006719900.1:p.Ile1260=
XM_011535117.3:c.3780C>T	XP_011533419.1:p.Ile1260=
XM_017020627.1:c.3780C>T	XP_016876116.1:p.Ile1260=
NM_000053.4:c.3876C>T MANE Select	NP_000044.2:p.Ile1292=
NM_001005918.3:c.3255C>T	NP_001005918.1:p.Ile1085=
NM_001330579.2:c.3624C>T	NP_001317508.1:p.Ile1208=
NM_001243182.2:c.3543C>T	NP_001230111.1:p.Ile1181=
NM_001330578.2:c.3642C>T	NP_001317507.1:p.Ile1214=