Canonical Allele Identifier: CA388016410
Community Standard Title: NM_000053.4(ATP7B):c.2506G>A (p.Gly836Arg)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51950341C>T , CM000675.2:g.51950341C>T GRCh38
NC_000013.10:g.52524477C>T , CM000675.1:g.52524477C>T GRCh37
NC_000013.9:g.51422478C>T NCBI36
NG_008806.1:g.66154G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.2506G>A MANE Select NP_000044.2:p.Gly836Arg
ENST00000242839.10:c.2506G>A MANE Select ENSP00000242839.5:p.Gly836Arg
NM_000053.3:c.2506G>A NP_000044.2:p.Gly836Arg
NM_001005918.2:c.2020G>A NP_001005918.1:p.Gly674Arg
NM_001005918.3:c.2020G>A NP_001005918.1:p.Gly674Arg
NM_001243182.1:c.2173G>A NP_001230111.1:p.Gly725Arg
NM_001243182.2:c.2173G>A NP_001230111.1:p.Gly725Arg
NM_001330578.1:c.2272G>A NP_001317507.1:p.Gly758Arg
NM_001330578.2:c.2272G>A NP_001317507.1:p.Gly758Arg
NM_001330579.1:c.2254G>A NP_001317508.1:p.Gly752Arg
NM_001330579.2:c.2254G>A NP_001317508.1:p.Gly752Arg
ENST00000242839.8:c.2506G>A ENSP00000242839.4:p.Gly836Arg
ENST00000344297.8:c.2020G>A ENSP00000342559.5:p.Gly674Arg
ENST00000344297.9:c.2020G>A ENSP00000342559.5:p.Gly674Arg
ENST00000400366.5:c.2173G>A ENSP00000383217.3:p.Gly725Arg
ENST00000400366.6:c.2173G>A ENSP00000383217.3:p.Gly725Arg
ENST00000400370.8:c.1286-180G>A ENSP00000383221.3:n.1286-180G>A
ENST00000418097.7:c.2506G>A ENSP00000393343.2:p.Gly836Arg
ENST00000448424.6:c.2272G>A ENSP00000416738.2:p.Gly758Arg
ENST00000448424.7:c.2254G>A ENSP00000416738.3:p.Gly752Arg
ENST00000634296.1:c.467G>A
ENST00000634296.2:c.*339G>A ENSP00000489512.2:n.*339G>A
ENST00000634308.1:c.2272G>A ENSP00000489234.1:p.Gly758Arg
ENST00000634620.1:n.3304G>A
ENST00000634810.1:n.1851G>A
ENST00000634844.1:c.2362G>A ENSP00000489398.1:p.Gly788Arg
ENST00000635406.1:n.212-3863G>A
ENST00000673772.1:c.2272G>A ENSP00000501168.1:p.Gly758Arg
ENST00000673864.2:c.*1250G>A ENSP00000501045.2:n.*1250G>A
ENST00000674147.1:c.1576G>A ENSP00000500964.1:p.Gly526Arg
ENST00000674147.2:c.2020G>A ENSP00000500964.2:p.Gly674Arg
XM_005266423.2:c.2410G>A XP_005266480.1:p.Gly804Arg
XM_005266424.3:c.2410G>A XP_005266481.1:p.Gly804Arg
XM_005266424.4:c.2410G>A XP_005266481.1:p.Gly804Arg
XM_005266427.2:c.2272G>A XP_005266484.1:p.Gly758Arg
XM_005266428.1:c.2254G>A XP_005266485.1:p.Gly752Arg
XM_005266430.3:c.2506G>A XP_005266487.1:p.Gly836Arg
XM_005266430.4:c.2506G>A XP_005266487.1:p.Gly836Arg
XM_005266431.2:c.2470G>A XP_005266488.1:p.Gly824Arg
XM_005266431.4:c.2470G>A XP_005266488.1:p.Gly824Arg
XM_005266432.2:c.2020G>A XP_005266489.1:p.Gly674Arg
XM_006719837.2:c.2410G>A XP_006719900.1:p.Gly804Arg
XM_006719837.3:c.2410G>A XP_006719900.1:p.Gly804Arg
XM_006719838.1:c.322G>A XP_006719901.1:p.Gly108Arg
XM_006719839.1:c.322G>A XP_006719902.1:p.Gly108Arg
XM_011535117.1:c.2410G>A XP_011533419.1:p.Gly804Arg
XM_011535117.3:c.2410G>A XP_011533419.1:p.Gly804Arg
XM_011535118.1:c.2506G>A XP_011533420.1:p.Gly836Arg
XM_011535119.1:c.2506G>A XP_011533421.1:p.Gly836Arg
XM_011535120.1:c.2092G>A XP_011533422.1:p.Gly698Arg
XM_011535121.1:c.2506G>A XP_011533423.1:p.Gly836Arg
XM_011535122.1:c.1174G>A XP_011533424.1:p.Gly392Arg
XM_017020627.1:c.2410G>A XP_016876116.1:p.Gly804Arg
XR_941601.1:n.2725G>A
XR_941602.1:n.2725G>A
XR_941603.1:n.2725G>A
XR_941604.1:n.2725G>A