Canonical Allele Identifier: CA388024373

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52513290T>G (hg19) ; chr13:g.51939154T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939154T>G , CM000675.2:g.51939154T>G	GRCh38
NC_000013.10:g.52513290T>G , CM000675.1:g.52513290T>G	GRCh37
NC_000013.9:g.51411291T>G	NCBI36
NG_008806.1:g.77341A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1246A>C	ENSP00000489512.2:n.*1246A>C
ENST00000673864.2:c.*2340A>C	ENSP00000501045.2:n.*2340A>C
ENST00000674147.2:c.2975A>C	ENSP00000500964.2:p.Lys992Thr
ENST00000242839.10:c.3596A>C MANE Select	ENSP00000242839.5:p.Lys1199Thr
ENST00000344297.9:c.2975A>C	ENSP00000342559.5:p.Lys992Thr
ENST00000400366.6:c.3263A>C	ENSP00000383217.3:p.Lys1088Thr
ENST00000448424.7:c.3344A>C	ENSP00000416738.3:p.Lys1115Thr
ENST00000673696.1:n.837A>C
ENST00000673772.1:c.3362A>C	ENSP00000501168.1:p.Lys1121Thr
ENST00000673867.1:n.3735A>C
ENST00000673923.1:n.462A>C
ENST00000674147.1:c.2531A>C	ENSP00000500964.1:p.Lys844Thr
ENST00000242839.8:c.3596A>C	ENSP00000242839.4:p.Lys1199Thr
ENST00000344297.8:c.2975A>C	ENSP00000342559.5:p.Lys992Thr
ENST00000400366.5:c.3263A>C	ENSP00000383217.3:p.Lys1088Thr
ENST00000400370.8:c.2306A>C	ENSP00000383221.3:p.Lys769Thr
ENST00000418097.7:c.3401A>C	ENSP00000393343.2:p.Lys1134Thr
ENST00000448424.6:c.3362A>C	ENSP00000416738.2:p.Lys1121Thr
ENST00000634296.1:c.1374A>C
ENST00000634308.1:c.*697A>C	ENSP00000489234.1:n.*697A>C
ENST00000634620.1:n.4340A>C
ENST00000634810.1:n.2941A>C
ENST00000634844.1:c.3452A>C	ENSP00000489398.1:p.Lys1151Thr
NM_000053.3:c.3596A>C	NP_000044.2:p.Lys1199Thr
NM_001005918.2:c.2975A>C	NP_001005918.1:p.Lys992Thr
NM_001243182.1:c.3263A>C	NP_001230111.1:p.Lys1088Thr
XM_005266423.2:c.3500A>C	XP_005266480.1:p.Lys1167Thr
XM_005266424.3:c.3500A>C	XP_005266481.1:p.Lys1167Thr
XM_005266427.2:c.3362A>C	XP_005266484.1:p.Lys1121Thr
XM_005266428.1:c.3344A>C	XP_005266485.1:p.Lys1115Thr
XM_005266430.3:c.3596A>C	XP_005266487.1:p.Lys1199Thr
XM_005266431.2:c.3560A>C	XP_005266488.1:p.Lys1187Thr
XM_005266432.2:c.3110A>C	XP_005266489.1:p.Lys1037Thr
XM_006719837.2:c.3500A>C	XP_006719900.1:p.Lys1167Thr
XM_006719838.1:c.1412A>C	XP_006719901.1:p.Lys471Thr
XM_006719839.1:c.1229A>C	XP_006719902.1:p.Lys410Thr
XM_011535117.1:c.3500A>C	XP_011533419.1:p.Lys1167Thr
XM_011535118.1:c.3461A>C	XP_011533420.1:p.Lys1154Thr
XM_011535119.1:c.3413A>C	XP_011533421.1:p.Lys1138Thr
XM_011535120.1:c.3182A>C	XP_011533422.1:p.Lys1061Thr
XM_011535121.1:c.3083A>C	XP_011533423.1:p.Lys1028Thr
XM_011535122.1:c.2264A>C	XP_011533424.1:p.Lys755Thr
XR_941601.1:n.3815A>C
XR_941602.1:n.3815A>C
XR_941603.1:n.3815A>C
XR_941604.1:n.3815A>C
NM_001330578.1:c.3362A>C	NP_001317507.1:p.Lys1121Thr
NM_001330579.1:c.3344A>C	NP_001317508.1:p.Lys1115Thr
XM_005266424.4:c.3500A>C	XP_005266481.1:p.Lys1167Thr
XM_005266430.4:c.3596A>C	XP_005266487.1:p.Lys1199Thr
XM_005266431.4:c.3560A>C	XP_005266488.1:p.Lys1187Thr
XM_006719837.3:c.3500A>C	XP_006719900.1:p.Lys1167Thr
XM_011535117.3:c.3500A>C	XP_011533419.1:p.Lys1167Thr
XM_017020627.1:c.3500A>C	XP_016876116.1:p.Lys1167Thr
NM_000053.4:c.3596A>C MANE Select	NP_000044.2:p.Lys1199Thr
NM_001005918.3:c.2975A>C	NP_001005918.1:p.Lys992Thr
NM_001330579.2:c.3344A>C	NP_001317508.1:p.Lys1115Thr
NM_001243182.2:c.3263A>C	NP_001230111.1:p.Lys1088Thr
NM_001330578.2:c.3362A>C	NP_001317507.1:p.Lys1121Thr