Canonical Allele Identifier: CA388028542
Gene: ATP7B HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51942498A>T , CM000675.2:g.51942498A>T GRCh38
NC_000013.10:g.52516634A>T , CM000675.1:g.52516634A>T GRCh37
NC_000013.9:g.51414635A>T NCBI36
NG_008806.1:g.73997T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000634296.2:c.*950T>A ENSP00000489512.2:n.*950T>A
ENST00000673864.2:c.*2044T>A ENSP00000501045.2:n.*2044T>A
ENST00000674147.2:c.2679T>A ENSP00000500964.2:p.Cys893Ter
ENST00000242839.10:c.3300T>A MANE Select ENSP00000242839.5:p.Cys1100Ter
ENST00000344297.9:c.2679T>A ENSP00000342559.5:p.Cys893Ter
ENST00000400366.6:c.2967T>A ENSP00000383217.3:p.Cys989Ter
ENST00000448424.7:c.3048T>A ENSP00000416738.3:p.Cys1016Ter
ENST00000673772.1:c.3066T>A ENSP00000501168.1:p.Cys1022Ter
ENST00000673867.1:n.3439T>A
ENST00000674126.1:n.3663T>A
ENST00000674147.1:c.2235T>A ENSP00000500964.1:p.Cys745Ter
ENST00000242839.8:c.3300T>A ENSP00000242839.4:p.Cys1100Ter
ENST00000344297.8:c.2679T>A ENSP00000342559.5:p.Cys893Ter
ENST00000400366.5:c.2967T>A ENSP00000383217.3:p.Cys989Ter
ENST00000400370.8:c.2010T>A ENSP00000383221.3:p.Cys670Ter
ENST00000418097.7:c.3105T>A ENSP00000393343.2:p.Cys1035Ter
ENST00000448424.6:c.3066T>A ENSP00000416738.2:p.Cys1022Ter
ENST00000634296.1:c.1078T>A
ENST00000634308.1:c.*401T>A ENSP00000489234.1:n.*401T>A
ENST00000634620.1:n.4044T>A
ENST00000634810.1:n.2645T>A
ENST00000634844.1:c.3156T>A ENSP00000489398.1:p.Cys1052Ter
NM_000053.3:c.3300T>A NP_000044.2:p.Cys1100Ter
NM_001005918.2:c.2679T>A NP_001005918.1:p.Cys893Ter
NM_001243182.1:c.2967T>A NP_001230111.1:p.Cys989Ter
XM_005266423.2:c.3204T>A XP_005266480.1:p.Cys1068Ter
XM_005266424.3:c.3204T>A XP_005266481.1:p.Cys1068Ter
XM_005266427.2:c.3066T>A XP_005266484.1:p.Cys1022Ter
XM_005266428.1:c.3048T>A XP_005266485.1:p.Cys1016Ter
XM_005266430.3:c.3300T>A XP_005266487.1:p.Cys1100Ter
XM_005266431.2:c.3264T>A XP_005266488.1:p.Cys1088Ter
XM_005266432.2:c.2814T>A XP_005266489.1:p.Cys938Ter
XM_006719837.2:c.3204T>A XP_006719900.1:p.Cys1068Ter
XM_006719838.1:c.1116T>A XP_006719901.1:p.Cys372Ter
XM_006719839.1:c.933T>A XP_006719902.1:p.Cys311Ter
XM_011535117.1:c.3204T>A XP_011533419.1:p.Cys1068Ter
XM_011535118.1:c.3165T>A XP_011533420.1:p.Cys1055Ter
XM_011535119.1:c.3117T>A XP_011533421.1:p.Cys1039Ter
XM_011535120.1:c.2886T>A XP_011533422.1:p.Cys962Ter
XM_011535121.1:c.2787T>A XP_011533423.1:p.Cys929Ter
XM_011535122.1:c.1968T>A XP_011533424.1:p.Cys656Ter
XR_941601.1:n.3519T>A
XR_941602.1:n.3519T>A
XR_941603.1:n.3519T>A
XR_941604.1:n.3519T>A
NM_001330578.1:c.3066T>A NP_001317507.1:p.Cys1022Ter
NM_001330579.1:c.3048T>A NP_001317508.1:p.Cys1016Ter
XM_005266424.4:c.3204T>A XP_005266481.1:p.Cys1068Ter
XM_005266430.4:c.3300T>A XP_005266487.1:p.Cys1100Ter
XM_005266431.4:c.3264T>A XP_005266488.1:p.Cys1088Ter
XM_006719837.3:c.3204T>A XP_006719900.1:p.Cys1068Ter
XM_011535117.3:c.3204T>A XP_011533419.1:p.Cys1068Ter
XM_017020627.1:c.3204T>A XP_016876116.1:p.Cys1068Ter
NM_000053.4:c.3300T>A MANE Select NP_000044.2:p.Cys1100Ter
NM_001005918.3:c.2679T>A NP_001005918.1:p.Cys893Ter
NM_001330579.2:c.3048T>A NP_001317508.1:p.Cys1016Ter
NM_001243182.2:c.2967T>A NP_001230111.1:p.Cys989Ter
NM_001330578.2:c.3066T>A NP_001317507.1:p.Cys1022Ter