Canonical Allele Identifier: CA388026011

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51941102-C-A
• MyVariant Identifiers: chr13:g.52515238C>A (hg19) ; chr13:g.51941102C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941102C>A , CM000675.2:g.51941102C>A	GRCh38
NC_000013.10:g.52515238C>A , CM000675.1:g.52515238C>A	GRCh37
NC_000013.9:g.51413239C>A	NCBI36
NG_008806.1:g.75393G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1185G>T	ENSP00000489512.2:n.*1185G>T
ENST00000673864.2:c.*2279G>T	ENSP00000501045.2:n.*2279G>T
ENST00000674147.2:c.2914G>T	ENSP00000500964.2:p.Ala972Ser
ENST00000242839.10:c.3535G>T MANE Select	ENSP00000242839.5:p.Ala1179Ser
ENST00000344297.9:c.2914G>T	ENSP00000342559.5:p.Ala972Ser
ENST00000400366.6:c.3202G>T	ENSP00000383217.3:p.Ala1068Ser
ENST00000448424.7:c.3283G>T	ENSP00000416738.3:p.Ala1095Ser
ENST00000673772.1:c.3301G>T	ENSP00000501168.1:p.Ala1101Ser
ENST00000673867.1:n.3674G>T
ENST00000674126.1:n.3898G>T
ENST00000674147.1:c.2470G>T	ENSP00000500964.1:p.Ala824Ser
ENST00000242839.8:c.3535G>T	ENSP00000242839.4:p.Ala1179Ser
ENST00000344297.8:c.2914G>T	ENSP00000342559.5:p.Ala972Ser
ENST00000400366.5:c.3202G>T	ENSP00000383217.3:p.Ala1068Ser
ENST00000400370.8:c.2245G>T	ENSP00000383221.3:p.Ala749Ser
ENST00000418097.7:c.3340G>T	ENSP00000393343.2:p.Ala1114Ser
ENST00000448424.6:c.3301G>T	ENSP00000416738.2:p.Ala1101Ser
ENST00000634296.1:c.1313G>T
ENST00000634308.1:c.*636G>T	ENSP00000489234.1:n.*636G>T
ENST00000634620.1:n.4279G>T
ENST00000634810.1:n.2880G>T
ENST00000634844.1:c.3391G>T	ENSP00000489398.1:p.Ala1131Ser
NM_000053.3:c.3535G>T	NP_000044.2:p.Ala1179Ser
NM_001005918.2:c.2914G>T	NP_001005918.1:p.Ala972Ser
NM_001243182.1:c.3202G>T	NP_001230111.1:p.Ala1068Ser
XM_005266423.2:c.3439G>T	XP_005266480.1:p.Ala1147Ser
XM_005266424.3:c.3439G>T	XP_005266481.1:p.Ala1147Ser
XM_005266427.2:c.3301G>T	XP_005266484.1:p.Ala1101Ser
XM_005266428.1:c.3283G>T	XP_005266485.1:p.Ala1095Ser
XM_005266430.3:c.3535G>T	XP_005266487.1:p.Ala1179Ser
XM_005266431.2:c.3499G>T	XP_005266488.1:p.Ala1167Ser
XM_005266432.2:c.3049G>T	XP_005266489.1:p.Ala1017Ser
XM_006719837.2:c.3439G>T	XP_006719900.1:p.Ala1147Ser
XM_006719838.1:c.1351G>T	XP_006719901.1:p.Ala451Ser
XM_006719839.1:c.1168G>T	XP_006719902.1:p.Ala390Ser
XM_011535117.1:c.3439G>T	XP_011533419.1:p.Ala1147Ser
XM_011535118.1:c.3400G>T	XP_011533420.1:p.Ala1134Ser
XM_011535119.1:c.3352G>T	XP_011533421.1:p.Ala1118Ser
XM_011535120.1:c.3121G>T	XP_011533422.1:p.Ala1041Ser
XM_011535121.1:c.3022G>T	XP_011533423.1:p.Ala1008Ser
XM_011535122.1:c.2203G>T	XP_011533424.1:p.Ala735Ser
XR_941601.1:n.3754G>T
XR_941602.1:n.3754G>T
XR_941603.1:n.3754G>T
XR_941604.1:n.3754G>T
NM_001330578.1:c.3301G>T	NP_001317507.1:p.Ala1101Ser
NM_001330579.1:c.3283G>T	NP_001317508.1:p.Ala1095Ser
XM_005266424.4:c.3439G>T	XP_005266481.1:p.Ala1147Ser
XM_005266430.4:c.3535G>T	XP_005266487.1:p.Ala1179Ser
XM_005266431.4:c.3499G>T	XP_005266488.1:p.Ala1167Ser
XM_006719837.3:c.3439G>T	XP_006719900.1:p.Ala1147Ser
XM_011535117.3:c.3439G>T	XP_011533419.1:p.Ala1147Ser
XM_017020627.1:c.3439G>T	XP_016876116.1:p.Ala1147Ser
NM_000053.4:c.3535G>T MANE Select	NP_000044.2:p.Ala1179Ser
NM_001005918.3:c.2914G>T	NP_001005918.1:p.Ala972Ser
NM_001330579.2:c.3283G>T	NP_001317508.1:p.Ala1095Ser
NM_001243182.2:c.3202G>T	NP_001230111.1:p.Ala1068Ser
NM_001330578.2:c.3301G>T	NP_001317507.1:p.Ala1101Ser