Canonical Allele Identifier: CA388016681
Community Standard Title: NM_000053.4(ATP7B):c.2486A>G (p.Asp829Gly)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51950361T>C , CM000675.2:g.51950361T>C GRCh38
NC_000013.10:g.52524497T>C , CM000675.1:g.52524497T>C GRCh37
NC_000013.9:g.51422498T>C NCBI36
NG_008806.1:g.66134A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.2486A>G MANE Select NP_000044.2:p.Asp829Gly
ENST00000242839.10:c.2486A>G MANE Select ENSP00000242839.5:p.Asp829Gly
NM_000053.3:c.2486A>G NP_000044.2:p.Asp829Gly
NM_001005918.2:c.2000A>G NP_001005918.1:p.Asp667Gly
NM_001005918.3:c.2000A>G NP_001005918.1:p.Asp667Gly
NM_001243182.1:c.2153A>G NP_001230111.1:p.Asp718Gly
NM_001243182.2:c.2153A>G NP_001230111.1:p.Asp718Gly
NM_001330578.1:c.2252A>G NP_001317507.1:p.Asp751Gly
NM_001330578.2:c.2252A>G NP_001317507.1:p.Asp751Gly
NM_001330579.1:c.2234A>G NP_001317508.1:p.Asp745Gly
NM_001330579.2:c.2234A>G NP_001317508.1:p.Asp745Gly
ENST00000242839.8:c.2486A>G ENSP00000242839.4:p.Asp829Gly
ENST00000344297.8:c.2000A>G ENSP00000342559.5:p.Asp667Gly
ENST00000344297.9:c.2000A>G ENSP00000342559.5:p.Asp667Gly
ENST00000400366.5:c.2153A>G ENSP00000383217.3:p.Asp718Gly
ENST00000400366.6:c.2153A>G ENSP00000383217.3:p.Asp718Gly
ENST00000400370.8:c.1286-200A>G ENSP00000383221.3:n.1286-200A>G
ENST00000418097.7:c.2486A>G ENSP00000393343.2:p.Asp829Gly
ENST00000448424.6:c.2252A>G ENSP00000416738.2:p.Asp751Gly
ENST00000448424.7:c.2234A>G ENSP00000416738.3:p.Asp745Gly
ENST00000634296.1:c.447A>G
ENST00000634296.2:c.*319A>G ENSP00000489512.2:n.*319A>G
ENST00000634308.1:c.2252A>G ENSP00000489234.1:p.Asp751Gly
ENST00000634620.1:n.3284A>G
ENST00000634810.1:n.1831A>G
ENST00000634844.1:c.2342A>G ENSP00000489398.1:p.Asp781Gly
ENST00000635406.1:n.212-3883A>G
ENST00000673772.1:c.2252A>G ENSP00000501168.1:p.Asp751Gly
ENST00000673864.2:c.*1230A>G ENSP00000501045.2:n.*1230A>G
ENST00000674147.1:c.1556A>G ENSP00000500964.1:p.Asp519Gly
ENST00000674147.2:c.2000A>G ENSP00000500964.2:p.Asp667Gly
XM_005266423.2:c.2390A>G XP_005266480.1:p.Asp797Gly
XM_005266424.3:c.2390A>G XP_005266481.1:p.Asp797Gly
XM_005266424.4:c.2390A>G XP_005266481.1:p.Asp797Gly
XM_005266427.2:c.2252A>G XP_005266484.1:p.Asp751Gly
XM_005266428.1:c.2234A>G XP_005266485.1:p.Asp745Gly
XM_005266430.3:c.2486A>G XP_005266487.1:p.Asp829Gly
XM_005266430.4:c.2486A>G XP_005266487.1:p.Asp829Gly
XM_005266431.2:c.2450A>G XP_005266488.1:p.Asp817Gly
XM_005266431.4:c.2450A>G XP_005266488.1:p.Asp817Gly
XM_005266432.2:c.2000A>G XP_005266489.1:p.Asp667Gly
XM_006719837.2:c.2390A>G XP_006719900.1:p.Asp797Gly
XM_006719837.3:c.2390A>G XP_006719900.1:p.Asp797Gly
XM_006719838.1:c.302A>G XP_006719901.1:p.Asp101Gly
XM_006719839.1:c.302A>G XP_006719902.1:p.Asp101Gly
XM_011535117.1:c.2390A>G XP_011533419.1:p.Asp797Gly
XM_011535117.3:c.2390A>G XP_011533419.1:p.Asp797Gly
XM_011535118.1:c.2486A>G XP_011533420.1:p.Asp829Gly
XM_011535119.1:c.2486A>G XP_011533421.1:p.Asp829Gly
XM_011535120.1:c.2072A>G XP_011533422.1:p.Asp691Gly
XM_011535121.1:c.2486A>G XP_011533423.1:p.Asp829Gly
XM_011535122.1:c.1154A>G XP_011533424.1:p.Asp385Gly
XM_017020627.1:c.2390A>G XP_016876116.1:p.Asp797Gly
XR_941601.1:n.2705A>G
XR_941602.1:n.2705A>G
XR_941603.1:n.2705A>G
XR_941604.1:n.2705A>G