Canonical Allele Identifier: CA388024371

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51939154-T-C
• MyVariant Identifiers: chr13:g.52513290T>C (hg19) ; chr13:g.51939154T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1246A>G	ENSP00000489512.2:n.*1246A>G
ENST00000673864.2:c.*2340A>G	ENSP00000501045.2:n.*2340A>G
ENST00000674147.2:c.2975A>G	ENSP00000500964.2:p.Lys992Arg
ENST00000242839.10:c.3596A>G MANE Select	ENSP00000242839.5:p.Lys1199Arg
ENST00000344297.9:c.2975A>G	ENSP00000342559.5:p.Lys992Arg
ENST00000400366.6:c.3263A>G	ENSP00000383217.3:p.Lys1088Arg
ENST00000448424.7:c.3344A>G	ENSP00000416738.3:p.Lys1115Arg
ENST00000673696.1:n.837A>G
ENST00000673772.1:c.3362A>G	ENSP00000501168.1:p.Lys1121Arg
ENST00000673867.1:n.3735A>G
ENST00000673923.1:n.462A>G
ENST00000674147.1:c.2531A>G	ENSP00000500964.1:p.Lys844Arg
ENST00000242839.8:c.3596A>G	ENSP00000242839.4:p.Lys1199Arg
ENST00000344297.8:c.2975A>G	ENSP00000342559.5:p.Lys992Arg
ENST00000400366.5:c.3263A>G	ENSP00000383217.3:p.Lys1088Arg
ENST00000400370.8:c.2306A>G	ENSP00000383221.3:p.Lys769Arg
ENST00000418097.7:c.3401A>G	ENSP00000393343.2:p.Lys1134Arg
ENST00000448424.6:c.3362A>G	ENSP00000416738.2:p.Lys1121Arg
ENST00000634296.1:c.1374A>G
ENST00000634308.1:c.*697A>G	ENSP00000489234.1:n.*697A>G
ENST00000634620.1:n.4340A>G
ENST00000634810.1:n.2941A>G
ENST00000634844.1:c.3452A>G	ENSP00000489398.1:p.Lys1151Arg
NM_000053.3:c.3596A>G	NP_000044.2:p.Lys1199Arg
NM_001005918.2:c.2975A>G	NP_001005918.1:p.Lys992Arg
NM_001243182.1:c.3263A>G	NP_001230111.1:p.Lys1088Arg
XM_005266423.2:c.3500A>G	XP_005266480.1:p.Lys1167Arg
XM_005266424.3:c.3500A>G	XP_005266481.1:p.Lys1167Arg
XM_005266427.2:c.3362A>G	XP_005266484.1:p.Lys1121Arg
XM_005266428.1:c.3344A>G	XP_005266485.1:p.Lys1115Arg
XM_005266430.3:c.3596A>G	XP_005266487.1:p.Lys1199Arg
XM_005266431.2:c.3560A>G	XP_005266488.1:p.Lys1187Arg
XM_005266432.2:c.3110A>G	XP_005266489.1:p.Lys1037Arg
XM_006719837.2:c.3500A>G	XP_006719900.1:p.Lys1167Arg
XM_006719838.1:c.1412A>G	XP_006719901.1:p.Lys471Arg
XM_006719839.1:c.1229A>G	XP_006719902.1:p.Lys410Arg
XM_011535117.1:c.3500A>G	XP_011533419.1:p.Lys1167Arg
XM_011535118.1:c.3461A>G	XP_011533420.1:p.Lys1154Arg
XM_011535119.1:c.3413A>G	XP_011533421.1:p.Lys1138Arg
XM_011535120.1:c.3182A>G	XP_011533422.1:p.Lys1061Arg
XM_011535121.1:c.3083A>G	XP_011533423.1:p.Lys1028Arg
XM_011535122.1:c.2264A>G	XP_011533424.1:p.Lys755Arg
XR_941601.1:n.3815A>G
XR_941602.1:n.3815A>G
XR_941603.1:n.3815A>G
XR_941604.1:n.3815A>G
NM_001330578.1:c.3362A>G	NP_001317507.1:p.Lys1121Arg
NM_001330579.1:c.3344A>G	NP_001317508.1:p.Lys1115Arg
XM_005266424.4:c.3500A>G	XP_005266481.1:p.Lys1167Arg
XM_005266430.4:c.3596A>G	XP_005266487.1:p.Lys1199Arg
XM_005266431.4:c.3560A>G	XP_005266488.1:p.Lys1187Arg
XM_006719837.3:c.3500A>G	XP_006719900.1:p.Lys1167Arg
XM_011535117.3:c.3500A>G	XP_011533419.1:p.Lys1167Arg
XM_017020627.1:c.3500A>G	XP_016876116.1:p.Lys1167Arg
NM_000053.4:c.3596A>G MANE Select	NP_000044.2:p.Lys1199Arg
NM_001005918.3:c.2975A>G	NP_001005918.1:p.Lys992Arg
NM_001330579.2:c.3344A>G	NP_001317508.1:p.Lys1115Arg
NM_001243182.2:c.3263A>G	NP_001230111.1:p.Lys1088Arg
NM_001330578.2:c.3362A>G	NP_001317507.1:p.Lys1121Arg