Canonical Allele Identifier: CA2091566082
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51946211T= , CM000675.2:g.51946211T= GRCh38
NC_000013.10:g.52520347T= , CM000675.1:g.52520347T= GRCh37
NC_000013.9:g.51418348T= NCBI36
NG_008806.1:g.70284A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000634296.2:c.*893+73A= ENSP00000489512.2:n.*893+73A=
ENST00000673864.2:c.*1804+73A= ENSP00000501045.2:n.*1804+73A=
ENST00000674147.2:c.2439+73A= ENSP00000500964.2:n.2439+73A=
ENST00000242839.10:c.3060+73A= MANE Select ENSP00000242839.5:n.3060+73A=
ENST00000344297.9:c.2439+73A= ENSP00000342559.5:n.2439+73A=
ENST00000400366.6:c.2727+73A= ENSP00000383217.3:n.2727+73A=
ENST00000448424.7:c.2808+73A= ENSP00000416738.3:n.2808+73A=
ENST00000673772.1:c.2826+73A= ENSP00000501168.1:n.2826+73A=
ENST00000673867.1:n.1280A=
ENST00000674126.1:n.3423+73A=
ENST00000674147.1:c.1995+73A= ENSP00000500964.1:n.1995+73A=
ENST00000242839.8:c.3060+73A= ENSP00000242839.4:n.3060+73A=
ENST00000344297.8:c.2439+73A= ENSP00000342559.5:n.2439+73A=
ENST00000400366.5:c.2727+73A= ENSP00000383217.3:n.2727+73A=
ENST00000400370.8:c.1770+73A= ENSP00000383221.3:n.1770+73A=
ENST00000418097.7:c.2866-1920A= ENSP00000393343.2:n.2866-1920A=
ENST00000448424.6:c.2826+73A= ENSP00000416738.2:n.2826+73A=
ENST00000466629.1:n.280+73A=
ENST00000634296.1:c.1021+73A=
ENST00000634308.1:c.*161+73A= ENSP00000489234.1:n.*161+73A=
ENST00000634620.1:n.3804+73A=
ENST00000634810.1:n.2405+73A=
ENST00000634844.1:c.2916+73A= ENSP00000489398.1:n.2916+73A=
ENST00000635406.1:n.406+73A=
NM_000053.3:c.3060+73A= NP_000044.2:n.3060+73A=
NM_001005918.2:c.2439+73A= NP_001005918.1:n.2439+73A=
NM_001243182.1:c.2727+73A= NP_001230111.1:n.2727+73A=
XM_005266423.2:c.2964+73A= XP_005266480.1:n.2964+73A=
XM_005266424.3:c.2964+73A= XP_005266481.1:n.2964+73A=
XM_005266427.2:c.2826+73A= XP_005266484.1:n.2826+73A=
XM_005266428.1:c.2808+73A= XP_005266485.1:n.2808+73A=
XM_005266430.3:c.3060+73A= XP_005266487.1:n.3060+73A=
XM_005266431.2:c.3024+73A= XP_005266488.1:n.3024+73A=
XM_005266432.2:c.2574+73A= XP_005266489.1:n.2574+73A=
XM_006719837.2:c.2964+73A= XP_006719900.1:n.2964+73A=
XM_006719838.1:c.876+73A= XP_006719901.1:n.876+73A=
XM_006719839.1:c.876+73A= XP_006719902.1:n.876+73A=
XM_011535117.1:c.2964+73A= XP_011533419.1:n.2964+73A=
XM_011535118.1:c.2925+73A= XP_011533420.1:n.2925+73A=
XM_011535119.1:c.3060+73A= XP_011533421.1:n.3060+73A=
XM_011535120.1:c.2646+73A= XP_011533422.1:n.2646+73A=
XM_011535121.1:c.2731-3657A= XP_011533423.1:n.2731-3657A=
XM_011535122.1:c.1728+73A= XP_011533424.1:n.1728+73A=
XR_941601.1:n.3279+73A=
XR_941602.1:n.3279+73A=
XR_941603.1:n.3279+73A=
XR_941604.1:n.3279+73A=
NM_001330578.1:c.2826+73A= NP_001317507.1:n.2826+73A=
NM_001330579.1:c.2808+73A= NP_001317508.1:n.2808+73A=
XM_005266424.4:c.2964+73A= XP_005266481.1:n.2964+73A=
XM_005266430.4:c.3060+73A= XP_005266487.1:n.3060+73A=
XM_005266431.4:c.3024+73A= XP_005266488.1:n.3024+73A=
XM_006719837.3:c.2964+73A= XP_006719900.1:n.2964+73A=
XM_011535117.3:c.2964+73A= XP_011533419.1:n.2964+73A=
XM_017020627.1:c.2964+73A= XP_016876116.1:n.2964+73A=
NM_000053.4:c.3060+73A= MANE Select NP_000044.2:n.3060+73A=
NM_001005918.3:c.2439+73A= NP_001005918.1:n.2439+73A=
NM_001330579.2:c.2808+73A= NP_001317508.1:n.2808+73A=
NM_001243182.2:c.2727+73A= NP_001230111.1:n.2727+73A=
NM_001330578.2:c.2826+73A= NP_001317507.1:n.2826+73A=