Canonical Allele Identifier: CA6988749
Community Standard Title: NM_000053.4(ATP7B):c.3272G>A (p.Cys1091Tyr)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51942526C>T , CM000675.2:g.51942526C>T GRCh38
NC_000013.10:g.52516662C>T , CM000675.1:g.52516662C>T GRCh37
NC_000013.9:g.51414663C>T NCBI36
NG_008806.1:g.73969G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.3272G>A MANE Select NP_000044.2:p.Cys1091Tyr
ENST00000242839.10:c.3272G>A MANE Select ENSP00000242839.5:p.Cys1091Tyr
NM_000053.3:c.3272G>A NP_000044.2:p.Cys1091Tyr
NM_001005918.2:c.2651G>A NP_001005918.1:p.Cys884Tyr
NM_001005918.3:c.2651G>A NP_001005918.1:p.Cys884Tyr
NM_001243182.1:c.2939G>A NP_001230111.1:p.Cys980Tyr
NM_001243182.2:c.2939G>A NP_001230111.1:p.Cys980Tyr
NM_001330578.1:c.3038G>A NP_001317507.1:p.Cys1013Tyr
NM_001330578.2:c.3038G>A NP_001317507.1:p.Cys1013Tyr
NM_001330579.1:c.3020G>A NP_001317508.1:p.Cys1007Tyr
NM_001330579.2:c.3020G>A NP_001317508.1:p.Cys1007Tyr
ENST00000242839.8:c.3272G>A ENSP00000242839.4:p.Cys1091Tyr
ENST00000344297.8:c.2651G>A ENSP00000342559.5:p.Cys884Tyr
ENST00000344297.9:c.2651G>A ENSP00000342559.5:p.Cys884Tyr
ENST00000400366.5:c.2939G>A ENSP00000383217.3:p.Cys980Tyr
ENST00000400366.6:c.2939G>A ENSP00000383217.3:p.Cys980Tyr
ENST00000400370.8:c.1982G>A ENSP00000383221.3:p.Cys661Tyr
ENST00000418097.7:c.3077G>A ENSP00000393343.2:p.Cys1026Tyr
ENST00000448424.6:c.3038G>A ENSP00000416738.2:p.Cys1013Tyr
ENST00000448424.7:c.3020G>A ENSP00000416738.3:p.Cys1007Tyr
ENST00000634296.1:c.1050G>A
ENST00000634296.2:c.*922G>A ENSP00000489512.2:n.*922G>A
ENST00000634308.1:c.*373G>A ENSP00000489234.1:n.*373G>A
ENST00000634620.1:n.4016G>A
ENST00000634810.1:n.2617G>A
ENST00000634844.1:c.3128G>A ENSP00000489398.1:p.Cys1043Tyr
ENST00000673772.1:c.3038G>A ENSP00000501168.1:p.Cys1013Tyr
ENST00000673864.2:c.*2016G>A ENSP00000501045.2:n.*2016G>A
ENST00000673867.1:n.3411G>A
ENST00000674126.1:n.3635G>A
ENST00000674147.1:c.2207G>A ENSP00000500964.1:p.Cys736Tyr
ENST00000674147.2:c.2651G>A ENSP00000500964.2:p.Cys884Tyr
XM_005266423.2:c.3176G>A XP_005266480.1:p.Cys1059Tyr
XM_005266424.3:c.3176G>A XP_005266481.1:p.Cys1059Tyr
XM_005266424.4:c.3176G>A XP_005266481.1:p.Cys1059Tyr
XM_005266427.2:c.3038G>A XP_005266484.1:p.Cys1013Tyr
XM_005266428.1:c.3020G>A XP_005266485.1:p.Cys1007Tyr
XM_005266430.3:c.3272G>A XP_005266487.1:p.Cys1091Tyr
XM_005266430.4:c.3272G>A XP_005266487.1:p.Cys1091Tyr
XM_005266431.2:c.3236G>A XP_005266488.1:p.Cys1079Tyr
XM_005266431.4:c.3236G>A XP_005266488.1:p.Cys1079Tyr
XM_005266432.2:c.2786G>A XP_005266489.1:p.Cys929Tyr
XM_006719837.2:c.3176G>A XP_006719900.1:p.Cys1059Tyr
XM_006719837.3:c.3176G>A XP_006719900.1:p.Cys1059Tyr
XM_006719838.1:c.1088G>A XP_006719901.1:p.Cys363Tyr
XM_006719839.1:c.905G>A XP_006719902.1:p.Cys302Tyr
XM_011535117.1:c.3176G>A XP_011533419.1:p.Cys1059Tyr
XM_011535117.3:c.3176G>A XP_011533419.1:p.Cys1059Tyr
XM_011535118.1:c.3137G>A XP_011533420.1:p.Cys1046Tyr
XM_011535119.1:c.3089G>A XP_011533421.1:p.Cys1030Tyr
XM_011535120.1:c.2858G>A XP_011533422.1:p.Cys953Tyr
XM_011535121.1:c.2759G>A XP_011533423.1:p.Cys920Tyr
XM_011535122.1:c.1940G>A XP_011533424.1:p.Cys647Tyr
XM_017020627.1:c.3176G>A XP_016876116.1:p.Cys1059Tyr
XR_941601.1:n.3491G>A
XR_941602.1:n.3491G>A
XR_941603.1:n.3491G>A
XR_941604.1:n.3491G>A