Canonical Allele Identifier: CA6988563
Community Standard Title: NM_000053.4(ATP7B):c.3836A>G (p.Asp1279Gly)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51937543T>C , CM000675.2:g.51937543T>C GRCh38
NC_000013.10:g.52511679T>C , CM000675.1:g.52511679T>C GRCh37
NC_000013.9:g.51409680T>C NCBI36
NG_008806.1:g.78952A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.3836A>G MANE Select NP_000044.2:p.Asp1279Gly
ENST00000242839.10:c.3836A>G MANE Select ENSP00000242839.5:p.Asp1279Gly
NM_000053.3:c.3836A>G NP_000044.2:p.Asp1279Gly
NM_001005918.2:c.3215A>G NP_001005918.1:p.Asp1072Gly
NM_001005918.3:c.3215A>G NP_001005918.1:p.Asp1072Gly
NM_001243182.1:c.3503A>G NP_001230111.1:p.Asp1168Gly
NM_001243182.2:c.3503A>G NP_001230111.1:p.Asp1168Gly
NM_001330578.1:c.3602A>G NP_001317507.1:p.Asp1201Gly
NM_001330578.2:c.3602A>G NP_001317507.1:p.Asp1201Gly
NM_001330579.1:c.3584A>G NP_001317508.1:p.Asp1195Gly
NM_001330579.2:c.3584A>G NP_001317508.1:p.Asp1195Gly
ENST00000242839.8:c.3836A>G ENSP00000242839.4:p.Asp1279Gly
ENST00000344297.8:c.3215A>G ENSP00000342559.5:p.Asp1072Gly
ENST00000344297.9:c.3215A>G ENSP00000342559.5:p.Asp1072Gly
ENST00000400366.5:c.3503A>G ENSP00000383217.3:p.Asp1168Gly
ENST00000400366.6:c.3503A>G ENSP00000383217.3:p.Asp1168Gly
ENST00000400370.8:c.2546A>G ENSP00000383221.3:p.Asp849Gly
ENST00000418097.7:c.3641A>G ENSP00000393343.2:p.Asp1214Gly
ENST00000448424.6:c.3602A>G ENSP00000416738.2:p.Asp1201Gly
ENST00000448424.7:c.3584A>G ENSP00000416738.3:p.Asp1195Gly
ENST00000634296.1:c.1614A>G
ENST00000634296.2:c.*1486A>G ENSP00000489512.2:n.*1486A>G
ENST00000634308.1:c.*937A>G ENSP00000489234.1:n.*937A>G
ENST00000634620.1:n.4580A>G
ENST00000634810.1:n.3181A>G
ENST00000634844.1:c.3692A>G ENSP00000489398.1:p.Asp1231Gly
ENST00000673696.1:n.1077A>G
ENST00000673772.1:c.3602A>G ENSP00000501168.1:p.Asp1201Gly
ENST00000673864.2:c.*2580A>G ENSP00000501045.2:n.*2580A>G
ENST00000673867.1:n.3975A>G
ENST00000673923.1:n.702A>G
ENST00000674147.1:c.2771A>G ENSP00000500964.1:p.Asp924Gly
ENST00000674147.2:c.3215A>G ENSP00000500964.2:p.Asp1072Gly
XM_005266423.2:c.3740A>G XP_005266480.1:p.Asp1247Gly
XM_005266424.3:c.3740A>G XP_005266481.1:p.Asp1247Gly
XM_005266424.4:c.3740A>G XP_005266481.1:p.Asp1247Gly
XM_005266427.2:c.3602A>G XP_005266484.1:p.Asp1201Gly
XM_005266428.1:c.3584A>G XP_005266485.1:p.Asp1195Gly
XM_005266430.3:c.3836A>G XP_005266487.1:p.Asp1279Gly
XM_005266430.4:c.3836A>G XP_005266487.1:p.Asp1279Gly
XM_005266431.2:c.3800A>G XP_005266488.1:p.Asp1267Gly
XM_005266431.4:c.3800A>G XP_005266488.1:p.Asp1267Gly
XM_005266432.2:c.3350A>G XP_005266489.1:p.Asp1117Gly
XM_006719837.2:c.3740A>G XP_006719900.1:p.Asp1247Gly
XM_006719837.3:c.3740A>G XP_006719900.1:p.Asp1247Gly
XM_006719838.1:c.1652A>G XP_006719901.1:p.Asp551Gly
XM_006719839.1:c.1469A>G XP_006719902.1:p.Asp490Gly
XM_011535117.1:c.3740A>G XP_011533419.1:p.Asp1247Gly
XM_011535117.3:c.3740A>G XP_011533419.1:p.Asp1247Gly
XM_011535118.1:c.3701A>G XP_011533420.1:p.Asp1234Gly
XM_011535119.1:c.3653A>G XP_011533421.1:p.Asp1218Gly
XM_011535120.1:c.3422A>G XP_011533422.1:p.Asp1141Gly
XM_011535121.1:c.3323A>G XP_011533423.1:p.Asp1108Gly
XM_011535122.1:c.2504A>G XP_011533424.1:p.Asp835Gly
XM_017020627.1:c.3740A>G XP_016876116.1:p.Asp1247Gly
XR_941601.1:n.4055A>G
XR_941602.1:n.4055A>G
XR_941603.1:n.4055A>G
XR_941604.1:n.4055A>G