Canonical Allele Identifier: CA6988802
Gene: ATP7B HGNC NCBI

Linked Data

ClinVar Variation Id: 312384
ClinVar RCV Id: RCV000308454
dbSNP Id: rs746485916

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51944231G>A , CM000675.2:g.51944231G>A GRCh38
NC_000013.10:g.52518367G>A , CM000675.1:g.52518367G>A GRCh37
NC_000013.9:g.51416368G>A NCBI36
NG_008806.1:g.72264C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000242839.10:c.3121C>T MANE Select ENSP00000242839.5:p.Arg1041Trp
ENST00000344297.9:c.2500C>T ENSP00000342559.5:p.Arg834Trp
ENST00000400366.6:n.2788C>T ENSP00000383217.3:p.Arg930Trp
ENST00000448424.7:c.2869C>T ENSP00000416738.3:p.Arg957Trp
ENST00000673772.1:c.2887C>T ENSP00000501168.1:p.Arg963Trp
ENST00000673867.1:n.3260C>T
ENST00000674126.1:n.3484C>T
ENST00000674147.1:n.2056C>T ENSP00000500964.1:p.Arg686Trp
ENST00000242839.8:c.3121C>T ENSP00000242839.4:p.Arg1041Trp
ENST00000344297.8:c.2500C>T ENSP00000342559.5:p.Arg834Trp
ENST00000400366.5:c.2788C>T ENSP00000383217.3:p.Arg930Trp
ENST00000400370.8:c.1831C>T ENSP00000383221.3:p.Arg611Trp
ENST00000418097.7:c.2926C>T ENSP00000393343.2:p.Arg976Trp
ENST00000448424.6:c.2887C>T ENSP00000416738.2:p.Arg963Trp
ENST00000466629.1:n.341C>T
ENST00000634296.1:n.1022-1677C>T
ENST00000634308.1:c.*222C>T ENSP00000489234.1:p.=
ENST00000634620.1:n.3865C>T
ENST00000634810.1:n.2466C>T
ENST00000634844.1:c.2977C>T ENSP00000489398.1:p.Arg993Trp
ENST00000635406.1:n.467C>T
NM_000053.3:c.3121C>T NP_000044.2:p.Arg1041Trp
NM_001005918.2:c.2500C>T NP_001005918.1:p.Arg834Trp
NM_001243182.1:c.2788C>T NP_001230111.1:p.Arg930Trp
XM_005266423.2:c.3025C>T XP_005266480.1:p.Arg1009Trp
XM_005266424.3:c.3025C>T XP_005266481.1:p.Arg1009Trp
XM_005266427.2:c.2887C>T XP_005266484.1:p.Arg963Trp
XM_005266428.1:c.2869C>T XP_005266485.1:p.Arg957Trp
XM_005266430.3:c.3121C>T XP_005266487.1:p.Arg1041Trp
XM_005266431.2:c.3085C>T XP_005266488.1:p.Arg1029Trp
XM_005266432.2:c.2635C>T XP_005266489.1:p.Arg879Trp
XM_006719837.2:c.3025C>T XP_006719900.1:p.Arg1009Trp
XM_006719838.1:c.937C>T XP_006719901.1:p.Arg313Trp
XM_006719839.1:c.877-1677C>T XP_006719902.1:p.=
XM_011535117.1:c.3025C>T XP_011533419.1:p.Arg1009Trp
XM_011535118.1:c.2986C>T XP_011533420.1:p.Arg996Trp
XM_011535119.1:c.3061-1677C>T XP_011533421.1:p.=
XM_011535120.1:c.2707C>T XP_011533422.1:p.Arg903Trp
XM_011535121.1:c.2731-1677C>T XP_011533423.1:p.=
XM_011535122.1:c.1789C>T XP_011533424.1:p.Arg597Trp
XR_941601.1:n.3340C>T
XR_941602.1:n.3340C>T
XR_941603.1:n.3340C>T
XR_941604.1:n.3340C>T
NM_001330578.1:c.2887C>T NP_001317507.1:p.Arg963Trp
NM_001330579.1:c.2869C>T NP_001317508.1:p.Arg957Trp
XM_005266424.4:c.3025C>T XP_005266481.1:p.Arg1009Trp
XM_005266430.4:c.3121C>T XP_005266487.1:p.Arg1041Trp
XM_005266431.4:c.3085C>T XP_005266488.1:p.Arg1029Trp
XM_006719837.3:c.3025C>T XP_006719900.1:p.Arg1009Trp
XM_011535117.3:c.3025C>T XP_011533419.1:p.Arg1009Trp
XM_017020627.1:c.3025C>T XP_016876116.1:p.Arg1009Trp
NM_000053.4:c.3121C>T MANE Select NP_000044.2:p.Arg1041Trp
NM_001005918.3:c.2500C>T NP_001005918.1:p.Arg834Trp
NM_001330579.2:c.2869C>T NP_001317508.1:p.Arg957Trp
NM_001243182.2:c.2788C>T NP_001230111.1:p.Arg930Trp
NM_001330578.2:c.2887C>T NP_001317507.1:p.Arg963Trp