Canonical Allele Identifier: CA483893844

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51939189-C-T
• MyVariant Identifiers: chr13:g.52513325C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939189C>T , CM000675.2:g.51939189C>T	GRCh38
NC_000013.10:g.52513325C>T , CM000675.1:g.52513325C>T	GRCh37
NC_000013.9:g.51411326C>T	NCBI36
NG_008806.1:g.77306G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1211G>A	ENSP00000489512.2:n.*1211G>A
ENST00000673864.2:c.*2305G>A	ENSP00000501045.2:n.*2305G>A
ENST00000674147.2:c.2940G>A	ENSP00000500964.2:p.Val980=
ENST00000242839.10:c.3561G>A MANE Select	ENSP00000242839.5:p.Val1187=
ENST00000344297.9:c.2940G>A	ENSP00000342559.5:p.Val980=
ENST00000400366.6:c.3228G>A	ENSP00000383217.3:p.Val1076=
ENST00000448424.7:c.3309G>A	ENSP00000416738.3:p.Val1103=
ENST00000673696.1:n.802G>A
ENST00000673772.1:c.3327G>A	ENSP00000501168.1:p.Val1109=
ENST00000673867.1:n.3700G>A
ENST00000673923.1:n.427G>A
ENST00000674147.1:c.2496G>A	ENSP00000500964.1:p.Val832=
ENST00000242839.8:c.3561G>A	ENSP00000242839.4:p.Val1187=
ENST00000344297.8:c.2940G>A	ENSP00000342559.5:p.Val980=
ENST00000400366.5:c.3228G>A	ENSP00000383217.3:p.Val1076=
ENST00000400370.8:c.2271G>A	ENSP00000383221.3:p.Val757=
ENST00000418097.7:c.3366G>A	ENSP00000393343.2:p.Val1122=
ENST00000448424.6:c.3327G>A	ENSP00000416738.2:p.Val1109=
ENST00000634296.1:c.1339G>A
ENST00000634308.1:c.*662G>A	ENSP00000489234.1:n.*662G>A
ENST00000634620.1:n.4305G>A
ENST00000634810.1:n.2906G>A
ENST00000634844.1:c.3417G>A	ENSP00000489398.1:p.Val1139=
NM_000053.3:c.3561G>A	NP_000044.2:p.Val1187=
NM_001005918.2:c.2940G>A	NP_001005918.1:p.Val980=
NM_001243182.1:c.3228G>A	NP_001230111.1:p.Val1076=
XM_005266423.2:c.3465G>A	XP_005266480.1:p.Val1155=
XM_005266424.3:c.3465G>A	XP_005266481.1:p.Val1155=
XM_005266427.2:c.3327G>A	XP_005266484.1:p.Val1109=
XM_005266428.1:c.3309G>A	XP_005266485.1:p.Val1103=
XM_005266430.3:c.3561G>A	XP_005266487.1:p.Val1187=
XM_005266431.2:c.3525G>A	XP_005266488.1:p.Val1175=
XM_005266432.2:c.3075G>A	XP_005266489.1:p.Val1025=
XM_006719837.2:c.3465G>A	XP_006719900.1:p.Val1155=
XM_006719838.1:c.1377G>A	XP_006719901.1:p.Val459=
XM_006719839.1:c.1194G>A	XP_006719902.1:p.Val398=
XM_011535117.1:c.3465G>A	XP_011533419.1:p.Val1155=
XM_011535118.1:c.3426G>A	XP_011533420.1:p.Val1142=
XM_011535119.1:c.3378G>A	XP_011533421.1:p.Val1126=
XM_011535120.1:c.3147G>A	XP_011533422.1:p.Val1049=
XM_011535121.1:c.3048G>A	XP_011533423.1:p.Val1016=
XM_011535122.1:c.2229G>A	XP_011533424.1:p.Val743=
XR_941601.1:n.3780G>A
XR_941602.1:n.3780G>A
XR_941603.1:n.3780G>A
XR_941604.1:n.3780G>A
NM_001330578.1:c.3327G>A	NP_001317507.1:p.Val1109=
NM_001330579.1:c.3309G>A	NP_001317508.1:p.Val1103=
XM_005266424.4:c.3465G>A	XP_005266481.1:p.Val1155=
XM_005266430.4:c.3561G>A	XP_005266487.1:p.Val1187=
XM_005266431.4:c.3525G>A	XP_005266488.1:p.Val1175=
XM_006719837.3:c.3465G>A	XP_006719900.1:p.Val1155=
XM_011535117.3:c.3465G>A	XP_011533419.1:p.Val1155=
XM_017020627.1:c.3465G>A	XP_016876116.1:p.Val1155=
NM_000053.4:c.3561G>A MANE Select	NP_000044.2:p.Val1187=
NM_001005918.3:c.2940G>A	NP_001005918.1:p.Val980=
NM_001330579.2:c.3309G>A	NP_001317508.1:p.Val1103=
NM_001243182.2:c.3228G>A	NP_001230111.1:p.Val1076=
NM_001330578.2:c.3327G>A	NP_001317507.1:p.Val1109=