Canonical Allele Identifier: CA388022050
Community Standard Title: NM_000053.4(ATP7B):c.3792G>T (p.Met1264Ile)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51937587C>A , CM000675.2:g.51937587C>A GRCh38
NC_000013.10:g.52511723C>A , CM000675.1:g.52511723C>A GRCh37
NC_000013.9:g.51409724C>A NCBI36
NG_008806.1:g.78908G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.3792G>T MANE Select NP_000044.2:p.Met1264Ile
ENST00000242839.10:c.3792G>T MANE Select ENSP00000242839.5:p.Met1264Ile
NM_000053.3:c.3792G>T NP_000044.2:p.Met1264Ile
NM_001005918.2:c.3171G>T NP_001005918.1:p.Met1057Ile
NM_001005918.3:c.3171G>T NP_001005918.1:p.Met1057Ile
NM_001243182.1:c.3459G>T NP_001230111.1:p.Met1153Ile
NM_001243182.2:c.3459G>T NP_001230111.1:p.Met1153Ile
NM_001330578.1:c.3558G>T NP_001317507.1:p.Met1186Ile
NM_001330578.2:c.3558G>T NP_001317507.1:p.Met1186Ile
NM_001330579.1:c.3540G>T NP_001317508.1:p.Met1180Ile
NM_001330579.2:c.3540G>T NP_001317508.1:p.Met1180Ile
ENST00000242839.8:c.3792G>T ENSP00000242839.4:p.Met1264Ile
ENST00000344297.8:c.3171G>T ENSP00000342559.5:p.Met1057Ile
ENST00000344297.9:c.3171G>T ENSP00000342559.5:p.Met1057Ile
ENST00000400366.5:c.3459G>T ENSP00000383217.3:p.Met1153Ile
ENST00000400366.6:c.3459G>T ENSP00000383217.3:p.Met1153Ile
ENST00000400370.8:c.2502G>T ENSP00000383221.3:p.Met834Ile
ENST00000418097.7:c.3597G>T ENSP00000393343.2:p.Met1199Ile
ENST00000448424.6:c.3558G>T ENSP00000416738.2:p.Met1186Ile
ENST00000448424.7:c.3540G>T ENSP00000416738.3:p.Met1180Ile
ENST00000634296.1:c.1570G>T
ENST00000634296.2:c.*1442G>T ENSP00000489512.2:n.*1442G>T
ENST00000634308.1:c.*893G>T ENSP00000489234.1:n.*893G>T
ENST00000634620.1:n.4536G>T
ENST00000634810.1:n.3137G>T
ENST00000634844.1:c.3648G>T ENSP00000489398.1:p.Met1216Ile
ENST00000673696.1:n.1033G>T
ENST00000673772.1:c.3558G>T ENSP00000501168.1:p.Met1186Ile
ENST00000673864.2:c.*2536G>T ENSP00000501045.2:n.*2536G>T
ENST00000673867.1:n.3931G>T
ENST00000673923.1:n.658G>T
ENST00000674147.1:c.2727G>T ENSP00000500964.1:p.Met909Ile
ENST00000674147.2:c.3171G>T ENSP00000500964.2:p.Met1057Ile
XM_005266423.2:c.3696G>T XP_005266480.1:p.Met1232Ile
XM_005266424.3:c.3696G>T XP_005266481.1:p.Met1232Ile
XM_005266424.4:c.3696G>T XP_005266481.1:p.Met1232Ile
XM_005266427.2:c.3558G>T XP_005266484.1:p.Met1186Ile
XM_005266428.1:c.3540G>T XP_005266485.1:p.Met1180Ile
XM_005266430.3:c.3792G>T XP_005266487.1:p.Met1264Ile
XM_005266430.4:c.3792G>T XP_005266487.1:p.Met1264Ile
XM_005266431.2:c.3756G>T XP_005266488.1:p.Met1252Ile
XM_005266431.4:c.3756G>T XP_005266488.1:p.Met1252Ile
XM_005266432.2:c.3306G>T XP_005266489.1:p.Met1102Ile
XM_006719837.2:c.3696G>T XP_006719900.1:p.Met1232Ile
XM_006719837.3:c.3696G>T XP_006719900.1:p.Met1232Ile
XM_006719838.1:c.1608G>T XP_006719901.1:p.Met536Ile
XM_006719839.1:c.1425G>T XP_006719902.1:p.Met475Ile
XM_011535117.1:c.3696G>T XP_011533419.1:p.Met1232Ile
XM_011535117.3:c.3696G>T XP_011533419.1:p.Met1232Ile
XM_011535118.1:c.3657G>T XP_011533420.1:p.Met1219Ile
XM_011535119.1:c.3609G>T XP_011533421.1:p.Met1203Ile
XM_011535120.1:c.3378G>T XP_011533422.1:p.Met1126Ile
XM_011535121.1:c.3279G>T XP_011533423.1:p.Met1093Ile
XM_011535122.1:c.2460G>T XP_011533424.1:p.Met820Ile
XM_017020627.1:c.3696G>T XP_016876116.1:p.Met1232Ile
XR_941601.1:n.4011G>T
XR_941602.1:n.4011G>T
XR_941603.1:n.4011G>T
XR_941604.1:n.4011G>T