Canonical Allele Identifier: CA388028466

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2627196
• ClinVar RCV Id: RCV003388390
• MyVariant Identifiers: chr13:g.52516623C>A (hg19) ; chr13:g.51942487C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51942487C>A , CM000675.2:g.51942487C>A	GRCh38
NC_000013.10:g.52516623C>A , CM000675.1:g.52516623C>A	GRCh37
NC_000013.9:g.51414624C>A	NCBI36
NG_008806.1:g.74008G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*961G>T	ENSP00000489512.2:n.*961G>T
ENST00000673864.2:c.*2055G>T	ENSP00000501045.2:n.*2055G>T
ENST00000674147.2:c.2690G>T	ENSP00000500964.2:p.Cys897Phe
ENST00000242839.10:c.3311G>T MANE Select	ENSP00000242839.5:p.Cys1104Phe
ENST00000344297.9:c.2690G>T	ENSP00000342559.5:p.Cys897Phe
ENST00000400366.6:c.2978G>T	ENSP00000383217.3:p.Cys993Phe
ENST00000448424.7:c.3059G>T	ENSP00000416738.3:p.Cys1020Phe
ENST00000673772.1:c.3077G>T	ENSP00000501168.1:p.Cys1026Phe
ENST00000673867.1:n.3450G>T
ENST00000674126.1:n.3674G>T
ENST00000674147.1:c.2246G>T	ENSP00000500964.1:p.Cys749Phe
ENST00000242839.8:c.3311G>T	ENSP00000242839.4:p.Cys1104Phe
ENST00000344297.8:c.2690G>T	ENSP00000342559.5:p.Cys897Phe
ENST00000400366.5:c.2978G>T	ENSP00000383217.3:p.Cys993Phe
ENST00000400370.8:c.2021G>T	ENSP00000383221.3:p.Cys674Phe
ENST00000418097.7:c.3116G>T	ENSP00000393343.2:p.Cys1039Phe
ENST00000448424.6:c.3077G>T	ENSP00000416738.2:p.Cys1026Phe
ENST00000634296.1:c.1089G>T
ENST00000634308.1:c.*412G>T	ENSP00000489234.1:n.*412G>T
ENST00000634620.1:n.4055G>T
ENST00000634810.1:n.2656G>T
ENST00000634844.1:c.3167G>T	ENSP00000489398.1:p.Cys1056Phe
NM_000053.3:c.3311G>T	NP_000044.2:p.Cys1104Phe
NM_001005918.2:c.2690G>T	NP_001005918.1:p.Cys897Phe
NM_001243182.1:c.2978G>T	NP_001230111.1:p.Cys993Phe
XM_005266423.2:c.3215G>T	XP_005266480.1:p.Cys1072Phe
XM_005266424.3:c.3215G>T	XP_005266481.1:p.Cys1072Phe
XM_005266427.2:c.3077G>T	XP_005266484.1:p.Cys1026Phe
XM_005266428.1:c.3059G>T	XP_005266485.1:p.Cys1020Phe
XM_005266430.3:c.3311G>T	XP_005266487.1:p.Cys1104Phe
XM_005266431.2:c.3275G>T	XP_005266488.1:p.Cys1092Phe
XM_005266432.2:c.2825G>T	XP_005266489.1:p.Cys942Phe
XM_006719837.2:c.3215G>T	XP_006719900.1:p.Cys1072Phe
XM_006719838.1:c.1127G>T	XP_006719901.1:p.Cys376Phe
XM_006719839.1:c.944G>T	XP_006719902.1:p.Cys315Phe
XM_011535117.1:c.3215G>T	XP_011533419.1:p.Cys1072Phe
XM_011535118.1:c.3176G>T	XP_011533420.1:p.Cys1059Phe
XM_011535119.1:c.3128G>T	XP_011533421.1:p.Cys1043Phe
XM_011535120.1:c.2897G>T	XP_011533422.1:p.Cys966Phe
XM_011535121.1:c.2798G>T	XP_011533423.1:p.Cys933Phe
XM_011535122.1:c.1979G>T	XP_011533424.1:p.Cys660Phe
XR_941601.1:n.3530G>T
XR_941602.1:n.3530G>T
XR_941603.1:n.3530G>T
XR_941604.1:n.3530G>T
NM_001330578.1:c.3077G>T	NP_001317507.1:p.Cys1026Phe
NM_001330579.1:c.3059G>T	NP_001317508.1:p.Cys1020Phe
XM_005266424.4:c.3215G>T	XP_005266481.1:p.Cys1072Phe
XM_005266430.4:c.3311G>T	XP_005266487.1:p.Cys1104Phe
XM_005266431.4:c.3275G>T	XP_005266488.1:p.Cys1092Phe
XM_006719837.3:c.3215G>T	XP_006719900.1:p.Cys1072Phe
XM_011535117.3:c.3215G>T	XP_011533419.1:p.Cys1072Phe
XM_017020627.1:c.3215G>T	XP_016876116.1:p.Cys1072Phe
NM_000053.4:c.3311G>T MANE Select	NP_000044.2:p.Cys1104Phe
NM_001005918.3:c.2690G>T	NP_001005918.1:p.Cys897Phe
NM_001330579.2:c.3059G>T	NP_001317508.1:p.Cys1020Phe
NM_001243182.2:c.2978G>T	NP_001230111.1:p.Cys993Phe
NM_001330578.2:c.3077G>T	NP_001317507.1:p.Cys1026Phe