Canonical Allele Identifier: CA6988809
Community Standard Title: NM_000053.4(ATP7B):c.3104G>A (p.Gly1035Asp)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51944248C>T , CM000675.2:g.51944248C>T GRCh38
NC_000013.10:g.52518384C>T , CM000675.1:g.52518384C>T GRCh37
NC_000013.9:g.51416385C>T NCBI36
NG_008806.1:g.72247G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.3104G>A MANE Select NP_000044.2:p.Gly1035Asp
ENST00000242839.10:c.3104G>A MANE Select ENSP00000242839.5:p.Gly1035Asp
NM_000053.3:c.3104G>A NP_000044.2:p.Gly1035Asp
NM_001005918.2:c.2483G>A NP_001005918.1:p.Gly828Asp
NM_001005918.3:c.2483G>A NP_001005918.1:p.Gly828Asp
NM_001243182.1:c.2771G>A NP_001230111.1:p.Gly924Asp
NM_001243182.2:c.2771G>A NP_001230111.1:p.Gly924Asp
NM_001330578.1:c.2870G>A NP_001317507.1:p.Gly957Asp
NM_001330578.2:c.2870G>A NP_001317507.1:p.Gly957Asp
NM_001330579.1:c.2852G>A NP_001317508.1:p.Gly951Asp
NM_001330579.2:c.2852G>A NP_001317508.1:p.Gly951Asp
ENST00000242839.8:c.3104G>A ENSP00000242839.4:p.Gly1035Asp
ENST00000344297.8:c.2483G>A ENSP00000342559.5:p.Gly828Asp
ENST00000344297.9:c.2483G>A ENSP00000342559.5:p.Gly828Asp
ENST00000400366.5:c.2771G>A ENSP00000383217.3:p.Gly924Asp
ENST00000400366.6:c.2771G>A ENSP00000383217.3:p.Gly924Asp
ENST00000400370.8:c.1814G>A ENSP00000383221.3:p.Gly605Asp
ENST00000418097.7:c.2909G>A ENSP00000393343.2:p.Gly970Asp
ENST00000448424.6:c.2870G>A ENSP00000416738.2:p.Gly957Asp
ENST00000448424.7:c.2852G>A ENSP00000416738.3:p.Gly951Asp
ENST00000466629.1:n.324G>A
ENST00000634296.1:c.1022-1694G>A
ENST00000634296.2:c.*894-1694G>A ENSP00000489512.2:n.*894-1694G>A
ENST00000634308.1:c.*205G>A ENSP00000489234.1:n.*205G>A
ENST00000634620.1:n.3848G>A
ENST00000634810.1:n.2449G>A
ENST00000634844.1:c.2960G>A ENSP00000489398.1:p.Gly987Asp
ENST00000635406.1:n.450G>A
ENST00000673772.1:c.2870G>A ENSP00000501168.1:p.Gly957Asp
ENST00000673864.2:c.*1848G>A ENSP00000501045.2:n.*1848G>A
ENST00000673867.1:n.3243G>A
ENST00000674126.1:n.3467G>A
ENST00000674147.1:c.2039G>A ENSP00000500964.1:p.Gly680Asp
ENST00000674147.2:c.2483G>A ENSP00000500964.2:p.Gly828Asp
XM_005266423.2:c.3008G>A XP_005266480.1:p.Gly1003Asp
XM_005266424.3:c.3008G>A XP_005266481.1:p.Gly1003Asp
XM_005266424.4:c.3008G>A XP_005266481.1:p.Gly1003Asp
XM_005266427.2:c.2870G>A XP_005266484.1:p.Gly957Asp
XM_005266428.1:c.2852G>A XP_005266485.1:p.Gly951Asp
XM_005266430.3:c.3104G>A XP_005266487.1:p.Gly1035Asp
XM_005266430.4:c.3104G>A XP_005266487.1:p.Gly1035Asp
XM_005266431.2:c.3068G>A XP_005266488.1:p.Gly1023Asp
XM_005266431.4:c.3068G>A XP_005266488.1:p.Gly1023Asp
XM_005266432.2:c.2618G>A XP_005266489.1:p.Gly873Asp
XM_006719837.2:c.3008G>A XP_006719900.1:p.Gly1003Asp
XM_006719837.3:c.3008G>A XP_006719900.1:p.Gly1003Asp
XM_006719838.1:c.920G>A XP_006719901.1:p.Gly307Asp
XM_006719839.1:c.877-1694G>A XP_006719902.1:n.877-1694G>A
XM_011535117.1:c.3008G>A XP_011533419.1:p.Gly1003Asp
XM_011535117.3:c.3008G>A XP_011533419.1:p.Gly1003Asp
XM_011535118.1:c.2969G>A XP_011533420.1:p.Gly990Asp
XM_011535119.1:c.3061-1694G>A XP_011533421.1:n.3061-1694G>A
XM_011535120.1:c.2690G>A XP_011533422.1:p.Gly897Asp
XM_011535121.1:c.2731-1694G>A XP_011533423.1:n.2731-1694G>A
XM_011535122.1:c.1772G>A XP_011533424.1:p.Gly591Asp
XM_017020627.1:c.3008G>A XP_016876116.1:p.Gly1003Asp
XR_941601.1:n.3323G>A
XR_941602.1:n.3323G>A
XR_941603.1:n.3323G>A
XR_941604.1:n.3323G>A