Canonical Allele Identifier: CA388024383

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52513291T>A (hg19) ; chr13:g.51939155T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939155T>A , CM000675.2:g.51939155T>A	GRCh38
NC_000013.10:g.52513291T>A , CM000675.1:g.52513291T>A	GRCh37
NC_000013.9:g.51411292T>A	NCBI36
NG_008806.1:g.77340A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1245A>T	ENSP00000489512.2:n.*1245A>T
ENST00000673864.2:c.*2339A>T	ENSP00000501045.2:n.*2339A>T
ENST00000674147.2:c.2974A>T	ENSP00000500964.2:p.Lys992Ter
ENST00000242839.10:c.3595A>T MANE Select	ENSP00000242839.5:p.Lys1199Ter
ENST00000344297.9:c.2974A>T	ENSP00000342559.5:p.Lys992Ter
ENST00000400366.6:c.3262A>T	ENSP00000383217.3:p.Lys1088Ter
ENST00000448424.7:c.3343A>T	ENSP00000416738.3:p.Lys1115Ter
ENST00000673696.1:n.836A>T
ENST00000673772.1:c.3361A>T	ENSP00000501168.1:p.Lys1121Ter
ENST00000673867.1:n.3734A>T
ENST00000673923.1:n.461A>T
ENST00000674147.1:c.2530A>T	ENSP00000500964.1:p.Lys844Ter
ENST00000242839.8:c.3595A>T	ENSP00000242839.4:p.Lys1199Ter
ENST00000344297.8:c.2974A>T	ENSP00000342559.5:p.Lys992Ter
ENST00000400366.5:c.3262A>T	ENSP00000383217.3:p.Lys1088Ter
ENST00000400370.8:c.2305A>T	ENSP00000383221.3:p.Lys769Ter
ENST00000418097.7:c.3400A>T	ENSP00000393343.2:p.Lys1134Ter
ENST00000448424.6:c.3361A>T	ENSP00000416738.2:p.Lys1121Ter
ENST00000634296.1:c.1373A>T
ENST00000634308.1:c.*696A>T	ENSP00000489234.1:n.*696A>T
ENST00000634620.1:n.4339A>T
ENST00000634810.1:n.2940A>T
ENST00000634844.1:c.3451A>T	ENSP00000489398.1:p.Lys1151Ter
NM_000053.3:c.3595A>T	NP_000044.2:p.Lys1199Ter
NM_001005918.2:c.2974A>T	NP_001005918.1:p.Lys992Ter
NM_001243182.1:c.3262A>T	NP_001230111.1:p.Lys1088Ter
XM_005266423.2:c.3499A>T	XP_005266480.1:p.Lys1167Ter
XM_005266424.3:c.3499A>T	XP_005266481.1:p.Lys1167Ter
XM_005266427.2:c.3361A>T	XP_005266484.1:p.Lys1121Ter
XM_005266428.1:c.3343A>T	XP_005266485.1:p.Lys1115Ter
XM_005266430.3:c.3595A>T	XP_005266487.1:p.Lys1199Ter
XM_005266431.2:c.3559A>T	XP_005266488.1:p.Lys1187Ter
XM_005266432.2:c.3109A>T	XP_005266489.1:p.Lys1037Ter
XM_006719837.2:c.3499A>T	XP_006719900.1:p.Lys1167Ter
XM_006719838.1:c.1411A>T	XP_006719901.1:p.Lys471Ter
XM_006719839.1:c.1228A>T	XP_006719902.1:p.Lys410Ter
XM_011535117.1:c.3499A>T	XP_011533419.1:p.Lys1167Ter
XM_011535118.1:c.3460A>T	XP_011533420.1:p.Lys1154Ter
XM_011535119.1:c.3412A>T	XP_011533421.1:p.Lys1138Ter
XM_011535120.1:c.3181A>T	XP_011533422.1:p.Lys1061Ter
XM_011535121.1:c.3082A>T	XP_011533423.1:p.Lys1028Ter
XM_011535122.1:c.2263A>T	XP_011533424.1:p.Lys755Ter
XR_941601.1:n.3814A>T
XR_941602.1:n.3814A>T
XR_941603.1:n.3814A>T
XR_941604.1:n.3814A>T
NM_001330578.1:c.3361A>T	NP_001317507.1:p.Lys1121Ter
NM_001330579.1:c.3343A>T	NP_001317508.1:p.Lys1115Ter
XM_005266424.4:c.3499A>T	XP_005266481.1:p.Lys1167Ter
XM_005266430.4:c.3595A>T	XP_005266487.1:p.Lys1199Ter
XM_005266431.4:c.3559A>T	XP_005266488.1:p.Lys1187Ter
XM_006719837.3:c.3499A>T	XP_006719900.1:p.Lys1167Ter
XM_011535117.3:c.3499A>T	XP_011533419.1:p.Lys1167Ter
XM_017020627.1:c.3499A>T	XP_016876116.1:p.Lys1167Ter
NM_000053.4:c.3595A>T MANE Select	NP_000044.2:p.Lys1199Ter
NM_001005918.3:c.2974A>T	NP_001005918.1:p.Lys992Ter
NM_001330579.2:c.3343A>T	NP_001317508.1:p.Lys1115Ter
NM_001243182.2:c.3262A>T	NP_001230111.1:p.Lys1088Ter
NM_001330578.2:c.3361A>T	NP_001317507.1:p.Lys1121Ter