Canonical Allele Identifier: CA388020209
Community Standard Title: NM_000053.4(ATP7B):c.2428G>T (p.Glu810Ter)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51957535C>A , CM000675.2:g.51957535C>A GRCh38
NC_000013.10:g.52531671C>A , CM000675.1:g.52531671C>A GRCh37
NC_000013.9:g.51429672C>A NCBI36
NG_008806.1:g.58960G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.2428G>T MANE Select NP_000044.2:p.Glu810Ter
ENST00000242839.10:c.2428G>T MANE Select ENSP00000242839.5:p.Glu810Ter
NM_000053.3:c.2428G>T NP_000044.2:p.Glu810Ter
NM_001005918.2:c.1942G>T NP_001005918.1:p.Glu648Ter
NM_001005918.3:c.1942G>T NP_001005918.1:p.Glu648Ter
NM_001243182.1:c.2095G>T NP_001230111.1:p.Glu699Ter
NM_001243182.2:c.2095G>T NP_001230111.1:p.Glu699Ter
NM_001330578.1:c.2194G>T NP_001317507.1:p.Glu732Ter
NM_001330578.2:c.2194G>T NP_001317507.1:p.Glu732Ter
NM_001330579.1:c.2176G>T NP_001317508.1:p.Glu726Ter
NM_001330579.2:c.2176G>T NP_001317508.1:p.Glu726Ter
ENST00000242839.8:c.2428G>T ENSP00000242839.4:p.Glu810Ter
ENST00000344297.8:c.1942G>T ENSP00000342559.5:p.Glu648Ter
ENST00000344297.9:c.1942G>T ENSP00000342559.5:p.Glu648Ter
ENST00000400366.5:c.2095G>T ENSP00000383217.3:p.Glu699Ter
ENST00000400366.6:c.2095G>T ENSP00000383217.3:p.Glu699Ter
ENST00000400370.8:c.1286-7374G>T ENSP00000383221.3:n.1286-7374G>T
ENST00000418097.7:c.2428G>T ENSP00000393343.2:p.Glu810Ter
ENST00000448424.6:c.2194G>T ENSP00000416738.2:p.Glu732Ter
ENST00000448424.7:c.2176G>T ENSP00000416738.3:p.Glu726Ter
ENST00000634296.1:c.389G>T
ENST00000634296.2:c.*261G>T ENSP00000489512.2:n.*261G>T
ENST00000634308.1:c.2194G>T ENSP00000489234.1:p.Glu732Ter
ENST00000634620.1:n.3226G>T
ENST00000634810.1:n.1773G>T
ENST00000634844.1:c.2284G>T ENSP00000489398.1:p.Glu762Ter
ENST00000635406.1:n.212-11057G>T
ENST00000673772.1:c.2194G>T ENSP00000501168.1:p.Glu732Ter
ENST00000673864.2:c.*1172G>T ENSP00000501045.2:n.*1172G>T
ENST00000674147.1:c.1498G>T ENSP00000500964.1:p.Glu500Ter
ENST00000674147.2:c.1942G>T ENSP00000500964.2:p.Glu648Ter
XM_005266423.2:c.2332G>T XP_005266480.1:p.Glu778Ter
XM_005266424.3:c.2332G>T XP_005266481.1:p.Glu778Ter
XM_005266424.4:c.2332G>T XP_005266481.1:p.Glu778Ter
XM_005266427.2:c.2194G>T XP_005266484.1:p.Glu732Ter
XM_005266428.1:c.2176G>T XP_005266485.1:p.Glu726Ter
XM_005266430.3:c.2428G>T XP_005266487.1:p.Glu810Ter
XM_005266430.4:c.2428G>T XP_005266487.1:p.Glu810Ter
XM_005266431.2:c.2392G>T XP_005266488.1:p.Glu798Ter
XM_005266431.4:c.2392G>T XP_005266488.1:p.Glu798Ter
XM_005266432.2:c.1942G>T XP_005266489.1:p.Glu648Ter
XM_006719837.2:c.2332G>T XP_006719900.1:p.Glu778Ter
XM_006719837.3:c.2332G>T XP_006719900.1:p.Glu778Ter
XM_006719838.1:c.244G>T XP_006719901.1:p.Glu82Ter
XM_006719839.1:c.244G>T XP_006719902.1:p.Glu82Ter
XM_011535117.1:c.2332G>T XP_011533419.1:p.Glu778Ter
XM_011535117.3:c.2332G>T XP_011533419.1:p.Glu778Ter
XM_011535118.1:c.2428G>T XP_011533420.1:p.Glu810Ter
XM_011535119.1:c.2428G>T XP_011533421.1:p.Glu810Ter
XM_011535120.1:c.2014G>T XP_011533422.1:p.Glu672Ter
XM_011535121.1:c.2428G>T XP_011533423.1:p.Glu810Ter
XM_011535122.1:c.1096G>T XP_011533424.1:p.Glu366Ter
XM_017020627.1:c.2332G>T XP_016876116.1:p.Glu778Ter
XR_941601.1:n.2647G>T
XR_941602.1:n.2647G>T
XR_941603.1:n.2647G>T
XR_941604.1:n.2647G>T