Canonical Allele Identifier: CA388021578
Community Standard Title: NM_000053.4(ATP7B):c.3862A>G (p.Thr1288Ala)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51937517T>C , CM000675.2:g.51937517T>C GRCh38
NC_000013.10:g.52511653T>C , CM000675.1:g.52511653T>C GRCh37
NC_000013.9:g.51409654T>C NCBI36
NG_008806.1:g.78978A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.3862A>G MANE Select NP_000044.2:p.Thr1288Ala
ENST00000242839.10:c.3862A>G MANE Select ENSP00000242839.5:p.Thr1288Ala
NM_000053.3:c.3862A>G NP_000044.2:p.Thr1288Ala
NM_001005918.2:c.3241A>G NP_001005918.1:p.Thr1081Ala
NM_001005918.3:c.3241A>G NP_001005918.1:p.Thr1081Ala
NM_001243182.1:c.3529A>G NP_001230111.1:p.Thr1177Ala
NM_001243182.2:c.3529A>G NP_001230111.1:p.Thr1177Ala
NM_001330578.1:c.3628A>G NP_001317507.1:p.Thr1210Ala
NM_001330578.2:c.3628A>G NP_001317507.1:p.Thr1210Ala
NM_001330579.1:c.3610A>G NP_001317508.1:p.Thr1204Ala
NM_001330579.2:c.3610A>G NP_001317508.1:p.Thr1204Ala
ENST00000242839.8:c.3862A>G ENSP00000242839.4:p.Thr1288Ala
ENST00000344297.8:c.3241A>G ENSP00000342559.5:p.Thr1081Ala
ENST00000344297.9:c.3241A>G ENSP00000342559.5:p.Thr1081Ala
ENST00000400366.5:c.3529A>G ENSP00000383217.3:p.Thr1177Ala
ENST00000400366.6:c.3529A>G ENSP00000383217.3:p.Thr1177Ala
ENST00000400370.8:c.2572A>G ENSP00000383221.3:p.Thr858Ala
ENST00000418097.7:c.3667A>G ENSP00000393343.2:p.Thr1223Ala
ENST00000448424.6:c.3628A>G ENSP00000416738.2:p.Thr1210Ala
ENST00000448424.7:c.3610A>G ENSP00000416738.3:p.Thr1204Ala
ENST00000634296.1:c.1640A>G
ENST00000634296.2:c.*1512A>G ENSP00000489512.2:n.*1512A>G
ENST00000634308.1:c.*963A>G ENSP00000489234.1:n.*963A>G
ENST00000634620.1:n.4606A>G
ENST00000634810.1:n.3207A>G
ENST00000634844.1:c.3718A>G ENSP00000489398.1:p.Thr1240Ala
ENST00000673696.1:n.1103A>G
ENST00000673772.1:c.3628A>G ENSP00000501168.1:p.Thr1210Ala
ENST00000673864.2:c.*2606A>G ENSP00000501045.2:n.*2606A>G
ENST00000673867.1:n.4001A>G
ENST00000673923.1:n.728A>G
ENST00000674147.1:c.2797A>G ENSP00000500964.1:p.Thr933Ala
ENST00000674147.2:c.3241A>G ENSP00000500964.2:p.Thr1081Ala
XM_005266423.2:c.3766A>G XP_005266480.1:p.Thr1256Ala
XM_005266424.3:c.3766A>G XP_005266481.1:p.Thr1256Ala
XM_005266424.4:c.3766A>G XP_005266481.1:p.Thr1256Ala
XM_005266427.2:c.3628A>G XP_005266484.1:p.Thr1210Ala
XM_005266428.1:c.3610A>G XP_005266485.1:p.Thr1204Ala
XM_005266430.3:c.3862A>G XP_005266487.1:p.Thr1288Ala
XM_005266430.4:c.3862A>G XP_005266487.1:p.Thr1288Ala
XM_005266431.2:c.3826A>G XP_005266488.1:p.Thr1276Ala
XM_005266431.4:c.3826A>G XP_005266488.1:p.Thr1276Ala
XM_005266432.2:c.3376A>G XP_005266489.1:p.Thr1126Ala
XM_006719837.2:c.3766A>G XP_006719900.1:p.Thr1256Ala
XM_006719837.3:c.3766A>G XP_006719900.1:p.Thr1256Ala
XM_006719838.1:c.1678A>G XP_006719901.1:p.Thr560Ala
XM_006719839.1:c.1495A>G XP_006719902.1:p.Thr499Ala
XM_011535117.1:c.3766A>G XP_011533419.1:p.Thr1256Ala
XM_011535117.3:c.3766A>G XP_011533419.1:p.Thr1256Ala
XM_011535118.1:c.3727A>G XP_011533420.1:p.Thr1243Ala
XM_011535119.1:c.3679A>G XP_011533421.1:p.Thr1227Ala
XM_011535120.1:c.3448A>G XP_011533422.1:p.Thr1150Ala
XM_011535121.1:c.3349A>G XP_011533423.1:p.Thr1117Ala
XM_011535122.1:c.2530A>G XP_011533424.1:p.Thr844Ala
XM_017020627.1:c.3766A>G XP_016876116.1:p.Thr1256Ala
XR_941601.1:n.4081A>G
XR_941602.1:n.4081A>G
XR_941603.1:n.4081A>G
XR_941604.1:n.4081A>G