Canonical Allele Identifier: CA388028462

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52516622G>C (hg19) ; chr13:g.51942486G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51942486G>C , CM000675.2:g.51942486G>C	GRCh38
NC_000013.10:g.52516622G>C , CM000675.1:g.52516622G>C	GRCh37
NC_000013.9:g.51414623G>C	NCBI36
NG_008806.1:g.74009C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*962C>G	ENSP00000489512.2:n.*962C>G
ENST00000673864.2:c.*2056C>G	ENSP00000501045.2:n.*2056C>G
ENST00000674147.2:c.2691C>G	ENSP00000500964.2:p.Cys897Trp
ENST00000242839.10:c.3312C>G MANE Select	ENSP00000242839.5:p.Cys1104Trp
ENST00000344297.9:c.2691C>G	ENSP00000342559.5:p.Cys897Trp
ENST00000400366.6:c.2979C>G	ENSP00000383217.3:p.Cys993Trp
ENST00000448424.7:c.3060C>G	ENSP00000416738.3:p.Cys1020Trp
ENST00000673772.1:c.3078C>G	ENSP00000501168.1:p.Cys1026Trp
ENST00000673867.1:n.3451C>G
ENST00000674126.1:n.3675C>G
ENST00000674147.1:c.2247C>G	ENSP00000500964.1:p.Cys749Trp
ENST00000242839.8:c.3312C>G	ENSP00000242839.4:p.Cys1104Trp
ENST00000344297.8:c.2691C>G	ENSP00000342559.5:p.Cys897Trp
ENST00000400366.5:c.2979C>G	ENSP00000383217.3:p.Cys993Trp
ENST00000400370.8:c.2022C>G	ENSP00000383221.3:p.Cys674Trp
ENST00000418097.7:c.3117C>G	ENSP00000393343.2:p.Cys1039Trp
ENST00000448424.6:c.3078C>G	ENSP00000416738.2:p.Cys1026Trp
ENST00000634296.1:c.1090C>G
ENST00000634308.1:c.*413C>G	ENSP00000489234.1:n.*413C>G
ENST00000634620.1:n.4056C>G
ENST00000634810.1:n.2657C>G
ENST00000634844.1:c.3168C>G	ENSP00000489398.1:p.Cys1056Trp
NM_000053.3:c.3312C>G	NP_000044.2:p.Cys1104Trp
NM_001005918.2:c.2691C>G	NP_001005918.1:p.Cys897Trp
NM_001243182.1:c.2979C>G	NP_001230111.1:p.Cys993Trp
XM_005266423.2:c.3216C>G	XP_005266480.1:p.Cys1072Trp
XM_005266424.3:c.3216C>G	XP_005266481.1:p.Cys1072Trp
XM_005266427.2:c.3078C>G	XP_005266484.1:p.Cys1026Trp
XM_005266428.1:c.3060C>G	XP_005266485.1:p.Cys1020Trp
XM_005266430.3:c.3312C>G	XP_005266487.1:p.Cys1104Trp
XM_005266431.2:c.3276C>G	XP_005266488.1:p.Cys1092Trp
XM_005266432.2:c.2826C>G	XP_005266489.1:p.Cys942Trp
XM_006719837.2:c.3216C>G	XP_006719900.1:p.Cys1072Trp
XM_006719838.1:c.1128C>G	XP_006719901.1:p.Cys376Trp
XM_006719839.1:c.945C>G	XP_006719902.1:p.Cys315Trp
XM_011535117.1:c.3216C>G	XP_011533419.1:p.Cys1072Trp
XM_011535118.1:c.3177C>G	XP_011533420.1:p.Cys1059Trp
XM_011535119.1:c.3129C>G	XP_011533421.1:p.Cys1043Trp
XM_011535120.1:c.2898C>G	XP_011533422.1:p.Cys966Trp
XM_011535121.1:c.2799C>G	XP_011533423.1:p.Cys933Trp
XM_011535122.1:c.1980C>G	XP_011533424.1:p.Cys660Trp
XR_941601.1:n.3531C>G
XR_941602.1:n.3531C>G
XR_941603.1:n.3531C>G
XR_941604.1:n.3531C>G
NM_001330578.1:c.3078C>G	NP_001317507.1:p.Cys1026Trp
NM_001330579.1:c.3060C>G	NP_001317508.1:p.Cys1020Trp
XM_005266424.4:c.3216C>G	XP_005266481.1:p.Cys1072Trp
XM_005266430.4:c.3312C>G	XP_005266487.1:p.Cys1104Trp
XM_005266431.4:c.3276C>G	XP_005266488.1:p.Cys1092Trp
XM_006719837.3:c.3216C>G	XP_006719900.1:p.Cys1072Trp
XM_011535117.3:c.3216C>G	XP_011533419.1:p.Cys1072Trp
XM_017020627.1:c.3216C>G	XP_016876116.1:p.Cys1072Trp
NM_000053.4:c.3312C>G MANE Select	NP_000044.2:p.Cys1104Trp
NM_001005918.3:c.2691C>G	NP_001005918.1:p.Cys897Trp
NM_001330579.2:c.3060C>G	NP_001317508.1:p.Cys1020Trp
NM_001243182.2:c.2979C>G	NP_001230111.1:p.Cys993Trp
NM_001330578.2:c.3078C>G	NP_001317507.1:p.Cys1026Trp