Canonical Allele Identifier: CA388021427
Community Standard Title: NM_000053.4(ATP7B):c.3887A>G (p.Asp1296Gly)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51937492T>C , CM000675.2:g.51937492T>C GRCh38
NC_000013.10:g.52511628T>C , CM000675.1:g.52511628T>C GRCh37
NC_000013.9:g.51409629T>C NCBI36
NG_008806.1:g.79003A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.3887A>G MANE Select NP_000044.2:p.Asp1296Gly
ENST00000242839.10:c.3887A>G MANE Select ENSP00000242839.5:p.Asp1296Gly
NM_000053.3:c.3887A>G NP_000044.2:p.Asp1296Gly
NM_001005918.2:c.3266A>G NP_001005918.1:p.Asp1089Gly
NM_001005918.3:c.3266A>G NP_001005918.1:p.Asp1089Gly
NM_001243182.1:c.3554A>G NP_001230111.1:p.Asp1185Gly
NM_001243182.2:c.3554A>G NP_001230111.1:p.Asp1185Gly
NM_001330578.1:c.3653A>G NP_001317507.1:p.Asp1218Gly
NM_001330578.2:c.3653A>G NP_001317507.1:p.Asp1218Gly
NM_001330579.1:c.3635A>G NP_001317508.1:p.Asp1212Gly
NM_001330579.2:c.3635A>G NP_001317508.1:p.Asp1212Gly
ENST00000242839.8:c.3887A>G ENSP00000242839.4:p.Asp1296Gly
ENST00000344297.8:c.3266A>G ENSP00000342559.5:p.Asp1089Gly
ENST00000344297.9:c.3266A>G ENSP00000342559.5:p.Asp1089Gly
ENST00000400366.5:c.3554A>G ENSP00000383217.3:p.Asp1185Gly
ENST00000400366.6:c.3554A>G ENSP00000383217.3:p.Asp1185Gly
ENST00000400370.8:c.2597A>G ENSP00000383221.3:p.Asp866Gly
ENST00000418097.7:c.3692A>G ENSP00000393343.2:p.Asp1231Gly
ENST00000448424.6:c.3653A>G ENSP00000416738.2:p.Asp1218Gly
ENST00000448424.7:c.3635A>G ENSP00000416738.3:p.Asp1212Gly
ENST00000634296.1:c.1665A>G
ENST00000634296.2:c.*1537A>G ENSP00000489512.2:n.*1537A>G
ENST00000634308.1:c.*988A>G ENSP00000489234.1:n.*988A>G
ENST00000634620.1:n.4631A>G
ENST00000634810.1:n.3232A>G
ENST00000634844.1:c.3743A>G ENSP00000489398.1:p.Asp1248Gly
ENST00000673696.1:n.1128A>G
ENST00000673772.1:c.3653A>G ENSP00000501168.1:p.Asp1218Gly
ENST00000673864.2:c.*2631A>G ENSP00000501045.2:n.*2631A>G
ENST00000673867.1:n.4026A>G
ENST00000673923.1:n.753A>G
ENST00000674147.1:c.2822A>G ENSP00000500964.1:p.Asp941Gly
ENST00000674147.2:c.3266A>G ENSP00000500964.2:p.Asp1089Gly
XM_005266423.2:c.3791A>G XP_005266480.1:p.Asp1264Gly
XM_005266424.3:c.3791A>G XP_005266481.1:p.Asp1264Gly
XM_005266424.4:c.3791A>G XP_005266481.1:p.Asp1264Gly
XM_005266427.2:c.3653A>G XP_005266484.1:p.Asp1218Gly
XM_005266428.1:c.3635A>G XP_005266485.1:p.Asp1212Gly
XM_005266430.3:c.3887A>G XP_005266487.1:p.Asp1296Gly
XM_005266430.4:c.3887A>G XP_005266487.1:p.Asp1296Gly
XM_005266431.2:c.3851A>G XP_005266488.1:p.Asp1284Gly
XM_005266431.4:c.3851A>G XP_005266488.1:p.Asp1284Gly
XM_005266432.2:c.3401A>G XP_005266489.1:p.Asp1134Gly
XM_006719837.2:c.3791A>G XP_006719900.1:p.Asp1264Gly
XM_006719837.3:c.3791A>G XP_006719900.1:p.Asp1264Gly
XM_006719838.1:c.1703A>G XP_006719901.1:p.Asp568Gly
XM_006719839.1:c.1520A>G XP_006719902.1:p.Asp507Gly
XM_011535117.1:c.3791A>G XP_011533419.1:p.Asp1264Gly
XM_011535117.3:c.3791A>G XP_011533419.1:p.Asp1264Gly
XM_011535118.1:c.3752A>G XP_011533420.1:p.Asp1251Gly
XM_011535119.1:c.3704A>G XP_011533421.1:p.Asp1235Gly
XM_011535120.1:c.3473A>G XP_011533422.1:p.Asp1158Gly
XM_011535121.1:c.3374A>G XP_011533423.1:p.Asp1125Gly
XM_011535122.1:c.2555A>G XP_011533424.1:p.Asp852Gly
XM_017020627.1:c.3791A>G XP_016876116.1:p.Asp1264Gly
XR_941601.1:n.4106A>G
XR_941602.1:n.4106A>G
XR_941603.1:n.4106A>G
XR_941604.1:n.4106A>G