Canonical Allele Identifier: CA2091563824
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51944155C= , CM000675.2:g.51944155C= GRCh38
NC_000013.10:g.52518291C= , CM000675.1:g.52518291C= GRCh37
NC_000013.9:g.51416292C= NCBI36
NG_008806.1:g.72340G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000634296.2:c.*894-1601G= ENSP00000489512.2:n.*894-1601G=
ENST00000673864.2:c.*1941G= ENSP00000501045.2:n.*1941G=
ENST00000674147.2:c.2576G= ENSP00000500964.2:p.Ser859=
ENST00000242839.10:c.3197G= MANE Select ENSP00000242839.5:p.Ser1066=
ENST00000344297.9:c.2576G= ENSP00000342559.5:p.Ser859=
ENST00000400366.6:c.2864G= ENSP00000383217.3:p.Ser955=
ENST00000448424.7:c.2945G= ENSP00000416738.3:p.Ser982=
ENST00000673772.1:c.2963G= ENSP00000501168.1:p.Ser988=
ENST00000673867.1:n.3336G=
ENST00000674126.1:n.3560G=
ENST00000674147.1:c.2132G= ENSP00000500964.1:p.Ser711=
ENST00000242839.8:c.3197G= ENSP00000242839.4:p.Ser1066=
ENST00000344297.8:c.2576G= ENSP00000342559.5:p.Ser859=
ENST00000400366.5:c.2864G= ENSP00000383217.3:p.Ser955=
ENST00000400370.8:c.1907G= ENSP00000383221.3:p.Ser636=
ENST00000418097.7:c.3002G= ENSP00000393343.2:p.Ser1001=
ENST00000448424.6:c.2963G= ENSP00000416738.2:p.Ser988=
ENST00000466629.1:n.417G=
ENST00000634296.1:c.1022-1601G=
ENST00000634308.1:c.*298G= ENSP00000489234.1:n.*298G=
ENST00000634620.1:n.3941G=
ENST00000634810.1:n.2542G=
ENST00000634844.1:c.3053G= ENSP00000489398.1:p.Ser1018=
NM_000053.3:c.3197G= NP_000044.2:p.Ser1066=
NM_001005918.2:c.2576G= NP_001005918.1:p.Ser859=
NM_001243182.1:c.2864G= NP_001230111.1:p.Ser955=
XM_005266423.2:c.3101G= XP_005266480.1:p.Ser1034=
XM_005266424.3:c.3101G= XP_005266481.1:p.Ser1034=
XM_005266427.2:c.2963G= XP_005266484.1:p.Ser988=
XM_005266428.1:c.2945G= XP_005266485.1:p.Ser982=
XM_005266430.3:c.3197G= XP_005266487.1:p.Ser1066=
XM_005266431.2:c.3161G= XP_005266488.1:p.Ser1054=
XM_005266432.2:c.2711G= XP_005266489.1:p.Ser904=
XM_006719837.2:c.3101G= XP_006719900.1:p.Ser1034=
XM_006719838.1:c.1013G= XP_006719901.1:p.Ser338=
XM_006719839.1:c.877-1601G= XP_006719902.1:n.877-1601G=
XM_011535117.1:c.3101G= XP_011533419.1:p.Ser1034=
XM_011535118.1:c.3062G= XP_011533420.1:p.Ser1021=
XM_011535119.1:c.3061-1601G= XP_011533421.1:n.3061-1601G=
XM_011535120.1:c.2783G= XP_011533422.1:p.Ser928=
XM_011535121.1:c.2731-1601G= XP_011533423.1:n.2731-1601G=
XM_011535122.1:c.1865G= XP_011533424.1:p.Ser622=
XR_941601.1:n.3416G=
XR_941602.1:n.3416G=
XR_941603.1:n.3416G=
XR_941604.1:n.3416G=
NM_001330578.1:c.2963G= NP_001317507.1:p.Ser988=
NM_001330579.1:c.2945G= NP_001317508.1:p.Ser982=
XM_005266424.4:c.3101G= XP_005266481.1:p.Ser1034=
XM_005266430.4:c.3197G= XP_005266487.1:p.Ser1066=
XM_005266431.4:c.3161G= XP_005266488.1:p.Ser1054=
XM_006719837.3:c.3101G= XP_006719900.1:p.Ser1034=
XM_011535117.3:c.3101G= XP_011533419.1:p.Ser1034=
XM_017020627.1:c.3101G= XP_016876116.1:p.Ser1034=
NM_000053.4:c.3197G= MANE Select NP_000044.2:p.Ser1066=
NM_001005918.3:c.2576G= NP_001005918.1:p.Ser859=
NM_001330579.2:c.2945G= NP_001317508.1:p.Ser982=
NM_001243182.2:c.2864G= NP_001230111.1:p.Ser955=
NM_001330578.2:c.2963G= NP_001317507.1:p.Ser988=