Canonical Allele Identifier: CA388021133

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511489T>G (hg19) ; chr13:g.51937353T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937353T>G , CM000675.2:g.51937353T>G	GRCh38
NC_000013.10:g.52511489T>G , CM000675.1:g.52511489T>G	GRCh37
NC_000013.9:g.51409490T>G	NCBI36
NG_008806.1:g.79142A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1594A>C	ENSP00000489512.2:n.*1594A>C
ENST00000673864.2:c.*2688A>C	ENSP00000501045.2:n.*2688A>C
ENST00000674147.2:c.3323A>C	ENSP00000500964.2:p.Lys1108Thr
ENST00000242839.10:c.3944A>C MANE Select	ENSP00000242839.5:p.Lys1315Thr
ENST00000344297.9:c.3323A>C	ENSP00000342559.5:p.Lys1108Thr
ENST00000400366.6:c.3611A>C	ENSP00000383217.3:p.Lys1204Thr
ENST00000448424.7:c.3692A>C	ENSP00000416738.3:p.Lys1231Thr
ENST00000673696.1:n.1267A>C
ENST00000673772.1:c.3710A>C	ENSP00000501168.1:p.Lys1237Thr
ENST00000673867.1:n.4083A>C
ENST00000673923.1:n.810A>C
ENST00000674147.1:c.2879A>C	ENSP00000500964.1:p.Lys960Thr
ENST00000242839.8:c.3944A>C	ENSP00000242839.4:p.Lys1315Thr
ENST00000344297.8:c.3323A>C	ENSP00000342559.5:p.Lys1108Thr
ENST00000400366.5:c.3611A>C	ENSP00000383217.3:p.Lys1204Thr
ENST00000400370.8:c.2654A>C	ENSP00000383221.3:p.Lys885Thr
ENST00000418097.7:c.3749A>C	ENSP00000393343.2:p.Lys1250Thr
ENST00000448424.6:c.3710A>C	ENSP00000416738.2:p.Lys1237Thr
ENST00000634296.1:c.1722A>C
ENST00000634308.1:c.*1045A>C	ENSP00000489234.1:n.*1045A>C
ENST00000634620.1:n.4688A>C
ENST00000634810.1:n.3289A>C
ENST00000634844.1:c.3800A>C	ENSP00000489398.1:p.Lys1267Thr
NM_000053.3:c.3944A>C	NP_000044.2:p.Lys1315Thr
NM_001005918.2:c.3323A>C	NP_001005918.1:p.Lys1108Thr
NM_001243182.1:c.3611A>C	NP_001230111.1:p.Lys1204Thr
XM_005266423.2:c.3848A>C	XP_005266480.1:p.Lys1283Thr
XM_005266424.3:c.3848A>C	XP_005266481.1:p.Lys1283Thr
XM_005266427.2:c.3710A>C	XP_005266484.1:p.Lys1237Thr
XM_005266428.1:c.3692A>C	XP_005266485.1:p.Lys1231Thr
XM_005266430.3:c.3944A>C	XP_005266487.1:p.Lys1315Thr
XM_005266431.2:c.3908A>C	XP_005266488.1:p.Lys1303Thr
XM_005266432.2:c.3458A>C	XP_005266489.1:p.Lys1153Thr
XM_006719837.2:c.3848A>C	XP_006719900.1:p.Lys1283Thr
XM_006719838.1:c.1760A>C	XP_006719901.1:p.Lys587Thr
XM_006719839.1:c.1577A>C	XP_006719902.1:p.Lys526Thr
XM_011535117.1:c.3848A>C	XP_011533419.1:p.Lys1283Thr
XM_011535118.1:c.3809A>C	XP_011533420.1:p.Lys1270Thr
XM_011535119.1:c.3761A>C	XP_011533421.1:p.Lys1254Thr
XM_011535120.1:c.3530A>C	XP_011533422.1:p.Lys1177Thr
XM_011535121.1:c.3431A>C	XP_011533423.1:p.Lys1144Thr
XM_011535122.1:c.2612A>C	XP_011533424.1:p.Lys871Thr
XR_941601.1:n.4163A>C
XR_941602.1:n.4163A>C
XR_941603.1:n.4163A>C
XR_941604.1:n.4163A>C
NM_001330578.1:c.3710A>C	NP_001317507.1:p.Lys1237Thr
NM_001330579.1:c.3692A>C	NP_001317508.1:p.Lys1231Thr
XM_005266424.4:c.3848A>C	XP_005266481.1:p.Lys1283Thr
XM_005266430.4:c.3944A>C	XP_005266487.1:p.Lys1315Thr
XM_005266431.4:c.3908A>C	XP_005266488.1:p.Lys1303Thr
XM_006719837.3:c.3848A>C	XP_006719900.1:p.Lys1283Thr
XM_011535117.3:c.3848A>C	XP_011533419.1:p.Lys1283Thr
XM_017020627.1:c.3848A>C	XP_016876116.1:p.Lys1283Thr
NM_000053.4:c.3944A>C MANE Select	NP_000044.2:p.Lys1315Thr
NM_001005918.3:c.3323A>C	NP_001005918.1:p.Lys1108Thr
NM_001330579.2:c.3692A>C	NP_001317508.1:p.Lys1231Thr
NM_001243182.2:c.3611A>C	NP_001230111.1:p.Lys1204Thr
NM_001330578.2:c.3710A>C	NP_001317507.1:p.Lys1237Thr