Canonical Allele Identifier: CA6988535
Community Standard Title: NM_000053.4(ATP7B):c.3912G>T (p.Leu1304Phe)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51937385C>A , CM000675.2:g.51937385C>A GRCh38
NC_000013.10:g.52511521C>A , CM000675.1:g.52511521C>A GRCh37
NC_000013.9:g.51409522C>A NCBI36
NG_008806.1:g.79110G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.3912G>T MANE Select NP_000044.2:p.Leu1304Phe
ENST00000242839.10:c.3912G>T MANE Select ENSP00000242839.5:p.Leu1304Phe
NM_000053.3:c.3912G>T NP_000044.2:p.Leu1304Phe
NM_001005918.2:c.3291G>T NP_001005918.1:p.Leu1097Phe
NM_001005918.3:c.3291G>T NP_001005918.1:p.Leu1097Phe
NM_001243182.1:c.3579G>T NP_001230111.1:p.Leu1193Phe
NM_001243182.2:c.3579G>T NP_001230111.1:p.Leu1193Phe
NM_001330578.1:c.3678G>T NP_001317507.1:p.Leu1226Phe
NM_001330578.2:c.3678G>T NP_001317507.1:p.Leu1226Phe
NM_001330579.1:c.3660G>T NP_001317508.1:p.Leu1220Phe
NM_001330579.2:c.3660G>T NP_001317508.1:p.Leu1220Phe
ENST00000242839.8:c.3912G>T ENSP00000242839.4:p.Leu1304Phe
ENST00000344297.8:c.3291G>T ENSP00000342559.5:p.Leu1097Phe
ENST00000344297.9:c.3291G>T ENSP00000342559.5:p.Leu1097Phe
ENST00000400366.5:c.3579G>T ENSP00000383217.3:p.Leu1193Phe
ENST00000400366.6:c.3579G>T ENSP00000383217.3:p.Leu1193Phe
ENST00000400370.8:c.2622G>T ENSP00000383221.3:p.Leu874Phe
ENST00000418097.7:c.3717G>T ENSP00000393343.2:p.Leu1239Phe
ENST00000448424.6:c.3678G>T ENSP00000416738.2:p.Leu1226Phe
ENST00000448424.7:c.3660G>T ENSP00000416738.3:p.Leu1220Phe
ENST00000634296.1:c.1690G>T
ENST00000634296.2:c.*1562G>T ENSP00000489512.2:n.*1562G>T
ENST00000634308.1:c.*1013G>T ENSP00000489234.1:n.*1013G>T
ENST00000634620.1:n.4656G>T
ENST00000634810.1:n.3257G>T
ENST00000634844.1:c.3768G>T ENSP00000489398.1:p.Leu1256Phe
ENST00000673696.1:n.1235G>T
ENST00000673772.1:c.3678G>T ENSP00000501168.1:p.Leu1226Phe
ENST00000673864.2:c.*2656G>T ENSP00000501045.2:n.*2656G>T
ENST00000673867.1:n.4051G>T
ENST00000673923.1:n.778G>T
ENST00000674147.1:c.2847G>T ENSP00000500964.1:p.Leu949Phe
ENST00000674147.2:c.3291G>T ENSP00000500964.2:p.Leu1097Phe
XM_005266423.2:c.3816G>T XP_005266480.1:p.Leu1272Phe
XM_005266424.3:c.3816G>T XP_005266481.1:p.Leu1272Phe
XM_005266424.4:c.3816G>T XP_005266481.1:p.Leu1272Phe
XM_005266427.2:c.3678G>T XP_005266484.1:p.Leu1226Phe
XM_005266428.1:c.3660G>T XP_005266485.1:p.Leu1220Phe
XM_005266430.3:c.3912G>T XP_005266487.1:p.Leu1304Phe
XM_005266430.4:c.3912G>T XP_005266487.1:p.Leu1304Phe
XM_005266431.2:c.3876G>T XP_005266488.1:p.Leu1292Phe
XM_005266431.4:c.3876G>T XP_005266488.1:p.Leu1292Phe
XM_005266432.2:c.3426G>T XP_005266489.1:p.Leu1142Phe
XM_006719837.2:c.3816G>T XP_006719900.1:p.Leu1272Phe
XM_006719837.3:c.3816G>T XP_006719900.1:p.Leu1272Phe
XM_006719838.1:c.1728G>T XP_006719901.1:p.Leu576Phe
XM_006719839.1:c.1545G>T XP_006719902.1:p.Leu515Phe
XM_011535117.1:c.3816G>T XP_011533419.1:p.Leu1272Phe
XM_011535117.3:c.3816G>T XP_011533419.1:p.Leu1272Phe
XM_011535118.1:c.3777G>T XP_011533420.1:p.Leu1259Phe
XM_011535119.1:c.3729G>T XP_011533421.1:p.Leu1243Phe
XM_011535120.1:c.3498G>T XP_011533422.1:p.Leu1166Phe
XM_011535121.1:c.3399G>T XP_011533423.1:p.Leu1133Phe
XM_011535122.1:c.2580G>T XP_011533424.1:p.Leu860Phe
XM_017020627.1:c.3816G>T XP_016876116.1:p.Leu1272Phe
XR_941601.1:n.4131G>T
XR_941602.1:n.4131G>T
XR_941603.1:n.4131G>T
XR_941604.1:n.4131G>T