Canonical Allele Identifier: CA388023978

Gene: ATP7B

Linked Data

• COSMIC: COSM5842630
• MyVariant Identifiers: chr13:g.52513243C>T (hg19) ; chr13:g.51939107C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939107C>T , CM000675.2:g.51939107C>T	GRCh38
NC_000013.10:g.52513243C>T , CM000675.1:g.52513243C>T	GRCh37
NC_000013.9:g.51411244C>T	NCBI36
NG_008806.1:g.77388G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1293G>A	ENSP00000489512.2:n.*1293G>A
ENST00000673864.2:c.*2387G>A	ENSP00000501045.2:n.*2387G>A
ENST00000674147.2:c.3022G>A	ENSP00000500964.2:p.Asp1008Asn
ENST00000242839.10:c.3643G>A MANE Select	ENSP00000242839.5:p.Asp1215Asn
ENST00000344297.9:c.3022G>A	ENSP00000342559.5:p.Asp1008Asn
ENST00000400366.6:c.3310G>A	ENSP00000383217.3:p.Asp1104Asn
ENST00000448424.7:c.3391G>A	ENSP00000416738.3:p.Asp1131Asn
ENST00000673696.1:n.884G>A
ENST00000673772.1:c.3409G>A	ENSP00000501168.1:p.Asp1137Asn
ENST00000673867.1:n.3782G>A
ENST00000673923.1:n.509G>A
ENST00000674147.1:c.2578G>A	ENSP00000500964.1:p.Asp860Asn
ENST00000242839.8:c.3643G>A	ENSP00000242839.4:p.Asp1215Asn
ENST00000344297.8:c.3022G>A	ENSP00000342559.5:p.Asp1008Asn
ENST00000400366.5:c.3310G>A	ENSP00000383217.3:p.Asp1104Asn
ENST00000400370.8:c.2353G>A	ENSP00000383221.3:p.Asp785Asn
ENST00000418097.7:c.3448G>A	ENSP00000393343.2:p.Asp1150Asn
ENST00000448424.6:c.3409G>A	ENSP00000416738.2:p.Asp1137Asn
ENST00000634296.1:c.1421G>A
ENST00000634308.1:c.*744G>A	ENSP00000489234.1:n.*744G>A
ENST00000634620.1:n.4387G>A
ENST00000634810.1:n.2988G>A
ENST00000634844.1:c.3499G>A	ENSP00000489398.1:p.Asp1167Asn
NM_000053.3:c.3643G>A	NP_000044.2:p.Asp1215Asn
NM_001005918.2:c.3022G>A	NP_001005918.1:p.Asp1008Asn
NM_001243182.1:c.3310G>A	NP_001230111.1:p.Asp1104Asn
XM_005266423.2:c.3547G>A	XP_005266480.1:p.Asp1183Asn
XM_005266424.3:c.3547G>A	XP_005266481.1:p.Asp1183Asn
XM_005266427.2:c.3409G>A	XP_005266484.1:p.Asp1137Asn
XM_005266428.1:c.3391G>A	XP_005266485.1:p.Asp1131Asn
XM_005266430.3:c.3643G>A	XP_005266487.1:p.Asp1215Asn
XM_005266431.2:c.3607G>A	XP_005266488.1:p.Asp1203Asn
XM_005266432.2:c.3157G>A	XP_005266489.1:p.Asp1053Asn
XM_006719837.2:c.3547G>A	XP_006719900.1:p.Asp1183Asn
XM_006719838.1:c.1459G>A	XP_006719901.1:p.Asp487Asn
XM_006719839.1:c.1276G>A	XP_006719902.1:p.Asp426Asn
XM_011535117.1:c.3547G>A	XP_011533419.1:p.Asp1183Asn
XM_011535118.1:c.3508G>A	XP_011533420.1:p.Asp1170Asn
XM_011535119.1:c.3460G>A	XP_011533421.1:p.Asp1154Asn
XM_011535120.1:c.3229G>A	XP_011533422.1:p.Asp1077Asn
XM_011535121.1:c.3130G>A	XP_011533423.1:p.Asp1044Asn
XM_011535122.1:c.2311G>A	XP_011533424.1:p.Asp771Asn
XR_941601.1:n.3862G>A
XR_941602.1:n.3862G>A
XR_941603.1:n.3862G>A
XR_941604.1:n.3862G>A
NM_001330578.1:c.3409G>A	NP_001317507.1:p.Asp1137Asn
NM_001330579.1:c.3391G>A	NP_001317508.1:p.Asp1131Asn
XM_005266424.4:c.3547G>A	XP_005266481.1:p.Asp1183Asn
XM_005266430.4:c.3643G>A	XP_005266487.1:p.Asp1215Asn
XM_005266431.4:c.3607G>A	XP_005266488.1:p.Asp1203Asn
XM_006719837.3:c.3547G>A	XP_006719900.1:p.Asp1183Asn
XM_011535117.3:c.3547G>A	XP_011533419.1:p.Asp1183Asn
XM_017020627.1:c.3547G>A	XP_016876116.1:p.Asp1183Asn
NM_000053.4:c.3643G>A MANE Select	NP_000044.2:p.Asp1215Asn
NM_001005918.3:c.3022G>A	NP_001005918.1:p.Asp1008Asn
NM_001330579.2:c.3391G>A	NP_001317508.1:p.Asp1131Asn
NM_001243182.2:c.3310G>A	NP_001230111.1:p.Asp1104Asn
NM_001330578.2:c.3409G>A	NP_001317507.1:p.Asp1137Asn