Canonical Allele Identifier: CA388033500

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52523845T>G (hg19) ; chr13:g.51949709T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51949709T>G , CM000675.2:g.51949709T>G	GRCh38
NC_000013.10:g.52523845T>G , CM000675.1:g.52523845T>G	GRCh37
NC_000013.9:g.51421846T>G	NCBI36
NG_008806.1:g.66786A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*651A>C	ENSP00000489512.2:n.*651A>C
ENST00000673864.2:c.*1562A>C	ENSP00000501045.2:n.*1562A>C
ENST00000674147.2:c.2244+298A>C	ENSP00000500964.2:n.2244+298A>C
ENST00000242839.10:c.2818A>C MANE Select	ENSP00000242839.5:p.Ile940Leu
ENST00000344297.9:c.2244+298A>C	ENSP00000342559.5:n.2244+298A>C
ENST00000400366.6:c.2485A>C	ENSP00000383217.3:p.Ile829Leu
ENST00000448424.7:c.2566A>C	ENSP00000416738.3:p.Ile856Leu
ENST00000673772.1:c.2584A>C	ENSP00000501168.1:p.Ile862Leu
ENST00000674147.1:c.1800+298A>C	ENSP00000500964.1:n.1800+298A>C
ENST00000242839.8:c.2818A>C	ENSP00000242839.4:p.Ile940Leu
ENST00000344297.8:c.2244+298A>C	ENSP00000342559.5:n.2244+298A>C
ENST00000400366.5:c.2485A>C	ENSP00000383217.3:p.Ile829Leu
ENST00000400370.8:c.1528A>C	ENSP00000383221.3:p.Ile510Leu
ENST00000418097.7:c.2818A>C	ENSP00000393343.2:p.Ile940Leu
ENST00000448424.6:c.2584A>C	ENSP00000416738.2:p.Ile862Leu
ENST00000634296.1:c.779A>C
ENST00000634308.1:c.2584A>C	ENSP00000489234.1:p.Ile862Leu
ENST00000634620.1:n.3609+7A>C
ENST00000634810.1:n.2163A>C
ENST00000634844.1:c.2674A>C	ENSP00000489398.1:p.Ile892Leu
ENST00000635406.1:n.212-3231A>C
NM_000053.3:c.2818A>C	NP_000044.2:p.Ile940Leu
NM_001005918.2:c.2244+298A>C	NP_001005918.1:n.2244+298A>C
NM_001243182.1:c.2485A>C	NP_001230111.1:p.Ile829Leu
XM_005266423.2:c.2722A>C	XP_005266480.1:p.Ile908Leu
XM_005266424.3:c.2722A>C	XP_005266481.1:p.Ile908Leu
XM_005266427.2:c.2584A>C	XP_005266484.1:p.Ile862Leu
XM_005266428.1:c.2566A>C	XP_005266485.1:p.Ile856Leu
XM_005266430.3:c.2818A>C	XP_005266487.1:p.Ile940Leu
XM_005266431.2:c.2782A>C	XP_005266488.1:p.Ile928Leu
XM_005266432.2:c.2332A>C	XP_005266489.1:p.Ile778Leu
XM_006719837.2:c.2722A>C	XP_006719900.1:p.Ile908Leu
XM_006719838.1:c.634A>C	XP_006719901.1:p.Ile212Leu
XM_006719839.1:c.634A>C	XP_006719902.1:p.Ile212Leu
XM_011535117.1:c.2722A>C	XP_011533419.1:p.Ile908Leu
XM_011535118.1:c.2730+298A>C	XP_011533420.1:n.2730+298A>C
XM_011535119.1:c.2818A>C	XP_011533421.1:p.Ile940Leu
XM_011535120.1:c.2404A>C	XP_011533422.1:p.Ile802Leu
XM_011535121.1:c.2730+298A>C	XP_011533423.1:n.2730+298A>C
XM_011535122.1:c.1486A>C	XP_011533424.1:p.Ile496Leu
XR_941601.1:n.3037A>C
XR_941602.1:n.3037A>C
XR_941603.1:n.3037A>C
XR_941604.1:n.3037A>C
NM_001330578.1:c.2584A>C	NP_001317507.1:p.Ile862Leu
NM_001330579.1:c.2566A>C	NP_001317508.1:p.Ile856Leu
XM_005266424.4:c.2722A>C	XP_005266481.1:p.Ile908Leu
XM_005266430.4:c.2818A>C	XP_005266487.1:p.Ile940Leu
XM_005266431.4:c.2782A>C	XP_005266488.1:p.Ile928Leu
XM_006719837.3:c.2722A>C	XP_006719900.1:p.Ile908Leu
XM_011535117.3:c.2722A>C	XP_011533419.1:p.Ile908Leu
XM_017020627.1:c.2722A>C	XP_016876116.1:p.Ile908Leu
NM_000053.4:c.2818A>C MANE Select	NP_000044.2:p.Ile940Leu
NM_001005918.3:c.2244+298A>C	NP_001005918.1:n.2244+298A>C
NM_001330579.2:c.2566A>C	NP_001317508.1:p.Ile856Leu
NM_001243182.2:c.2485A>C	NP_001230111.1:p.Ile829Leu
NM_001330578.2:c.2584A>C	NP_001317507.1:p.Ile862Leu