Canonical Allele Identifier: CA388016427

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52524479G>T (hg19) ; chr13:g.51950343G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950343G>T , CM000675.2:g.51950343G>T	GRCh38
NC_000013.10:g.52524479G>T , CM000675.1:g.52524479G>T	GRCh37
NC_000013.9:g.51422480G>T	NCBI36
NG_008806.1:g.66152C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*337C>A	ENSP00000489512.2:n.*337C>A
ENST00000673864.2:c.*1248C>A	ENSP00000501045.2:n.*1248C>A
ENST00000674147.2:c.2018C>A	ENSP00000500964.2:p.Pro673His
ENST00000242839.10:c.2504C>A MANE Select	ENSP00000242839.5:p.Pro835His
ENST00000344297.9:c.2018C>A	ENSP00000342559.5:p.Pro673His
ENST00000400366.6:c.2171C>A	ENSP00000383217.3:p.Pro724His
ENST00000448424.7:c.2252C>A	ENSP00000416738.3:p.Pro751His
ENST00000673772.1:c.2270C>A	ENSP00000501168.1:p.Pro757His
ENST00000674147.1:c.1574C>A	ENSP00000500964.1:p.Pro525His
ENST00000242839.8:c.2504C>A	ENSP00000242839.4:p.Pro835His
ENST00000344297.8:c.2018C>A	ENSP00000342559.5:p.Pro673His
ENST00000400366.5:c.2171C>A	ENSP00000383217.3:p.Pro724His
ENST00000400370.8:c.1286-182C>A	ENSP00000383221.3:n.1286-182C>A
ENST00000418097.7:c.2504C>A	ENSP00000393343.2:p.Pro835His
ENST00000448424.6:c.2270C>A	ENSP00000416738.2:p.Pro757His
ENST00000634296.1:c.465C>A
ENST00000634308.1:c.2270C>A	ENSP00000489234.1:p.Pro757His
ENST00000634620.1:n.3302C>A
ENST00000634810.1:n.1849C>A
ENST00000634844.1:c.2360C>A	ENSP00000489398.1:p.Pro787His
ENST00000635406.1:n.212-3865C>A
NM_000053.3:c.2504C>A	NP_000044.2:p.Pro835His
NM_001005918.2:c.2018C>A	NP_001005918.1:p.Pro673His
NM_001243182.1:c.2171C>A	NP_001230111.1:p.Pro724His
XM_005266423.2:c.2408C>A	XP_005266480.1:p.Pro803His
XM_005266424.3:c.2408C>A	XP_005266481.1:p.Pro803His
XM_005266427.2:c.2270C>A	XP_005266484.1:p.Pro757His
XM_005266428.1:c.2252C>A	XP_005266485.1:p.Pro751His
XM_005266430.3:c.2504C>A	XP_005266487.1:p.Pro835His
XM_005266431.2:c.2468C>A	XP_005266488.1:p.Pro823His
XM_005266432.2:c.2018C>A	XP_005266489.1:p.Pro673His
XM_006719837.2:c.2408C>A	XP_006719900.1:p.Pro803His
XM_006719838.1:c.320C>A	XP_006719901.1:p.Pro107His
XM_006719839.1:c.320C>A	XP_006719902.1:p.Pro107His
XM_011535117.1:c.2408C>A	XP_011533419.1:p.Pro803His
XM_011535118.1:c.2504C>A	XP_011533420.1:p.Pro835His
XM_011535119.1:c.2504C>A	XP_011533421.1:p.Pro835His
XM_011535120.1:c.2090C>A	XP_011533422.1:p.Pro697His
XM_011535121.1:c.2504C>A	XP_011533423.1:p.Pro835His
XM_011535122.1:c.1172C>A	XP_011533424.1:p.Pro391His
XR_941601.1:n.2723C>A
XR_941602.1:n.2723C>A
XR_941603.1:n.2723C>A
XR_941604.1:n.2723C>A
NM_001330578.1:c.2270C>A	NP_001317507.1:p.Pro757His
NM_001330579.1:c.2252C>A	NP_001317508.1:p.Pro751His
XM_005266424.4:c.2408C>A	XP_005266481.1:p.Pro803His
XM_005266430.4:c.2504C>A	XP_005266487.1:p.Pro835His
XM_005266431.4:c.2468C>A	XP_005266488.1:p.Pro823His
XM_006719837.3:c.2408C>A	XP_006719900.1:p.Pro803His
XM_011535117.3:c.2408C>A	XP_011533419.1:p.Pro803His
XM_017020627.1:c.2408C>A	XP_016876116.1:p.Pro803His
NM_000053.4:c.2504C>A MANE Select	NP_000044.2:p.Pro835His
NM_001005918.3:c.2018C>A	NP_001005918.1:p.Pro673His
NM_001330579.2:c.2252C>A	NP_001317508.1:p.Pro751His
NM_001243182.2:c.2171C>A	NP_001230111.1:p.Pro724His
NM_001330578.2:c.2270C>A	NP_001317507.1:p.Pro757His