Canonical Allele Identifier: CA260153

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 35731
• ClinVar RCV Id: RCV000029380 ; RCV000242632 ; RCV001579911 ; RCV002326687
• dbSNP Id: rs116091486
• ExAC: 13:52508988 C / T
• gnomAD v2: 13-52508988-C-T
• gnomAD v3: 13-51934852-C-T
• gnomAD v4: 13-51934852-C-T
• MyVariant Identifiers: chr13:g.52508988C>T (hg19) ; chr13:g.51934852C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51934852C>T , CM000675.2:g.51934852C>T	GRCh38
NC_000013.10:g.52508988C>T , CM000675.1:g.52508988C>T	GRCh37
NC_000013.9:g.51406989C>T	NCBI36
NG_008806.1:g.81643G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1952G>A	ENSP00000489512.2:n.*1952G>A
ENST00000673864.2:c.*3046G>A	ENSP00000501045.2:n.*3046G>A
ENST00000674147.2:c.3681G>A	ENSP00000500964.2:p.Thr1227=
ENST00000242839.10:c.4302G>A MANE Select	ENSP00000242839.5:p.Thr1434=
ENST00000344297.9:c.3681G>A	ENSP00000342559.5:p.Thr1227=
ENST00000400366.6:c.3969G>A	ENSP00000383217.3:p.Thr1323=
ENST00000448424.7:c.4050G>A	ENSP00000416738.3:p.Thr1350=
ENST00000673696.1:n.1625G>A
ENST00000673772.1:c.4068G>A	ENSP00000501168.1:p.Thr1356=
ENST00000673867.1:n.4441G>A
ENST00000673923.1:n.1168G>A
ENST00000674147.1:c.3237G>A	ENSP00000500964.1:p.Thr1079=
ENST00000242839.8:c.4302G>A	ENSP00000242839.4:p.Thr1434=
ENST00000344297.8:c.3681G>A	ENSP00000342559.5:p.Thr1227=
ENST00000400366.5:c.3969G>A	ENSP00000383217.3:p.Thr1323=
ENST00000400370.8:c.3012G>A	ENSP00000383221.3:p.Thr1004=
ENST00000418097.7:c.4107G>A	ENSP00000393343.2:p.Thr1369=
ENST00000448424.6:c.4068G>A	ENSP00000416738.2:p.Thr1356=
ENST00000634296.1:c.2080G>A
ENST00000634308.1:c.*1403G>A	ENSP00000489234.1:n.*1403G>A
ENST00000634620.1:n.5046G>A
ENST00000634810.1:n.3647G>A
ENST00000634844.1:c.4158G>A	ENSP00000489398.1:p.Thr1386=
NM_000053.3:c.4302G>A	NP_000044.2:p.Thr1434=
NM_001005918.2:c.3681G>A	NP_001005918.1:p.Thr1227=
NM_001243182.1:c.3969G>A	NP_001230111.1:p.Thr1323=
XM_005266423.2:c.4206G>A	XP_005266480.1:p.Thr1402=
XM_005266424.3:c.4206G>A	XP_005266481.1:p.Thr1402=
XM_005266427.2:c.4068G>A	XP_005266484.1:p.Thr1356=
XM_005266428.1:c.4050G>A	XP_005266485.1:p.Thr1350=
XM_005266430.3:c.4302G>A	XP_005266487.1:p.Thr1434=
XM_005266431.2:c.4266G>A	XP_005266488.1:p.Thr1422=
XM_005266432.2:c.3816G>A	XP_005266489.1:p.Thr1272=
XM_006719837.2:c.4206G>A	XP_006719900.1:p.Thr1402=
XM_006719838.1:c.2118G>A	XP_006719901.1:p.Thr706=
XM_006719839.1:c.1935G>A	XP_006719902.1:p.Thr645=
XM_011535117.1:c.4206G>A	XP_011533419.1:p.Thr1402=
XM_011535118.1:c.4167G>A	XP_011533420.1:p.Thr1389=
XM_011535119.1:c.4119G>A	XP_011533421.1:p.Thr1373=
XM_011535120.1:c.3888G>A	XP_011533422.1:p.Thr1296=
XM_011535121.1:c.3789G>A	XP_011533423.1:p.Thr1263=
XM_011535122.1:c.2970G>A	XP_011533424.1:p.Thr990=
XR_941601.1:n.4521G>A
XR_941602.1:n.4521G>A
XR_941603.1:n.4521G>A
XR_941604.1:n.4521G>A
NM_001330578.1:c.4068G>A	NP_001317507.1:p.Thr1356=
NM_001330579.1:c.4050G>A	NP_001317508.1:p.Thr1350=
XM_005266424.4:c.4206G>A	XP_005266481.1:p.Thr1402=
XM_005266430.4:c.4302G>A	XP_005266487.1:p.Thr1434=
XM_005266431.4:c.4266G>A	XP_005266488.1:p.Thr1422=
XM_006719837.3:c.4206G>A	XP_006719900.1:p.Thr1402=
XM_011535117.3:c.4206G>A	XP_011533419.1:p.Thr1402=
XM_017020627.1:c.4206G>A	XP_016876116.1:p.Thr1402=
NM_000053.4:c.4302G>A MANE Select	NP_000044.2:p.Thr1434=
NM_001005918.3:c.3681G>A	NP_001005918.1:p.Thr1227=
NM_001330579.2:c.4050G>A	NP_001317508.1:p.Thr1350=
NM_001243182.2:c.3969G>A	NP_001230111.1:p.Thr1323=
NM_001330578.2:c.4068G>A	NP_001317507.1:p.Thr1356=