Canonical Allele Identifier: CA388022165
Community Standard Title: NM_000053.4(ATP7B):c.3772A>T (p.Lys1258Ter)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51937607T>A , CM000675.2:g.51937607T>A GRCh38
NC_000013.10:g.52511743T>A , CM000675.1:g.52511743T>A GRCh37
NC_000013.9:g.51409744T>A NCBI36
NG_008806.1:g.78888A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.3772A>T MANE Select NP_000044.2:p.Lys1258Ter
ENST00000242839.10:c.3772A>T MANE Select ENSP00000242839.5:p.Lys1258Ter
NM_000053.3:c.3772A>T NP_000044.2:p.Lys1258Ter
NM_001005918.2:c.3151A>T NP_001005918.1:p.Lys1051Ter
NM_001005918.3:c.3151A>T NP_001005918.1:p.Lys1051Ter
NM_001243182.1:c.3439A>T NP_001230111.1:p.Lys1147Ter
NM_001243182.2:c.3439A>T NP_001230111.1:p.Lys1147Ter
NM_001330578.1:c.3538A>T NP_001317507.1:p.Lys1180Ter
NM_001330578.2:c.3538A>T NP_001317507.1:p.Lys1180Ter
NM_001330579.1:c.3520A>T NP_001317508.1:p.Lys1174Ter
NM_001330579.2:c.3520A>T NP_001317508.1:p.Lys1174Ter
ENST00000242839.8:c.3772A>T ENSP00000242839.4:p.Lys1258Ter
ENST00000344297.8:c.3151A>T ENSP00000342559.5:p.Lys1051Ter
ENST00000344297.9:c.3151A>T ENSP00000342559.5:p.Lys1051Ter
ENST00000400366.5:c.3439A>T ENSP00000383217.3:p.Lys1147Ter
ENST00000400366.6:c.3439A>T ENSP00000383217.3:p.Lys1147Ter
ENST00000400370.8:c.2482A>T ENSP00000383221.3:p.Lys828Ter
ENST00000418097.7:c.3577A>T ENSP00000393343.2:p.Lys1193Ter
ENST00000448424.6:c.3538A>T ENSP00000416738.2:p.Lys1180Ter
ENST00000448424.7:c.3520A>T ENSP00000416738.3:p.Lys1174Ter
ENST00000634296.1:c.1550A>T
ENST00000634296.2:c.*1422A>T ENSP00000489512.2:n.*1422A>T
ENST00000634308.1:c.*873A>T ENSP00000489234.1:n.*873A>T
ENST00000634620.1:n.4516A>T
ENST00000634810.1:n.3117A>T
ENST00000634844.1:c.3628A>T ENSP00000489398.1:p.Lys1210Ter
ENST00000673696.1:n.1013A>T
ENST00000673772.1:c.3538A>T ENSP00000501168.1:p.Lys1180Ter
ENST00000673864.2:c.*2516A>T ENSP00000501045.2:n.*2516A>T
ENST00000673867.1:n.3911A>T
ENST00000673923.1:n.638A>T
ENST00000674147.1:c.2707A>T ENSP00000500964.1:p.Lys903Ter
ENST00000674147.2:c.3151A>T ENSP00000500964.2:p.Lys1051Ter
XM_005266423.2:c.3676A>T XP_005266480.1:p.Lys1226Ter
XM_005266424.3:c.3676A>T XP_005266481.1:p.Lys1226Ter
XM_005266424.4:c.3676A>T XP_005266481.1:p.Lys1226Ter
XM_005266427.2:c.3538A>T XP_005266484.1:p.Lys1180Ter
XM_005266428.1:c.3520A>T XP_005266485.1:p.Lys1174Ter
XM_005266430.3:c.3772A>T XP_005266487.1:p.Lys1258Ter
XM_005266430.4:c.3772A>T XP_005266487.1:p.Lys1258Ter
XM_005266431.2:c.3736A>T XP_005266488.1:p.Lys1246Ter
XM_005266431.4:c.3736A>T XP_005266488.1:p.Lys1246Ter
XM_005266432.2:c.3286A>T XP_005266489.1:p.Lys1096Ter
XM_006719837.2:c.3676A>T XP_006719900.1:p.Lys1226Ter
XM_006719837.3:c.3676A>T XP_006719900.1:p.Lys1226Ter
XM_006719838.1:c.1588A>T XP_006719901.1:p.Lys530Ter
XM_006719839.1:c.1405A>T XP_006719902.1:p.Lys469Ter
XM_011535117.1:c.3676A>T XP_011533419.1:p.Lys1226Ter
XM_011535117.3:c.3676A>T XP_011533419.1:p.Lys1226Ter
XM_011535118.1:c.3637A>T XP_011533420.1:p.Lys1213Ter
XM_011535119.1:c.3589A>T XP_011533421.1:p.Lys1197Ter
XM_011535120.1:c.3358A>T XP_011533422.1:p.Lys1120Ter
XM_011535121.1:c.3259A>T XP_011533423.1:p.Lys1087Ter
XM_011535122.1:c.2440A>T XP_011533424.1:p.Lys814Ter
XM_017020627.1:c.3676A>T XP_016876116.1:p.Lys1226Ter
XR_941601.1:n.3991A>T
XR_941602.1:n.3991A>T
XR_941603.1:n.3991A>T
XR_941604.1:n.3991A>T