Canonical Allele Identifier: CA388020378
Community Standard Title: NM_000053.4(ATP7B):c.2377G>C (p.Ala793Pro)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51957586C>G , CM000675.2:g.51957586C>G GRCh38
NC_000013.10:g.52531722C>G , CM000675.1:g.52531722C>G GRCh37
NC_000013.9:g.51429723C>G NCBI36
NG_008806.1:g.58909G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.2377G>C MANE Select NP_000044.2:p.Ala793Pro
ENST00000242839.10:c.2377G>C MANE Select ENSP00000242839.5:p.Ala793Pro
NM_000053.3:c.2377G>C NP_000044.2:p.Ala793Pro
NM_001005918.2:c.1891G>C NP_001005918.1:p.Ala631Pro
NM_001005918.3:c.1891G>C NP_001005918.1:p.Ala631Pro
NM_001243182.1:c.2044G>C NP_001230111.1:p.Ala682Pro
NM_001243182.2:c.2044G>C NP_001230111.1:p.Ala682Pro
NM_001330578.1:c.2143G>C NP_001317507.1:p.Ala715Pro
NM_001330578.2:c.2143G>C NP_001317507.1:p.Ala715Pro
NM_001330579.1:c.2125G>C NP_001317508.1:p.Ala709Pro
NM_001330579.2:c.2125G>C NP_001317508.1:p.Ala709Pro
ENST00000242839.8:c.2377G>C ENSP00000242839.4:p.Ala793Pro
ENST00000344297.8:c.1891G>C ENSP00000342559.5:p.Ala631Pro
ENST00000344297.9:c.1891G>C ENSP00000342559.5:p.Ala631Pro
ENST00000400366.5:c.2044G>C ENSP00000383217.3:p.Ala682Pro
ENST00000400366.6:c.2044G>C ENSP00000383217.3:p.Ala682Pro
ENST00000400370.8:c.1286-7425G>C ENSP00000383221.3:n.1286-7425G>C
ENST00000418097.7:c.2377G>C ENSP00000393343.2:p.Ala793Pro
ENST00000448424.6:c.2143G>C ENSP00000416738.2:p.Ala715Pro
ENST00000448424.7:c.2125G>C ENSP00000416738.3:p.Ala709Pro
ENST00000634296.1:c.338G>C
ENST00000634296.2:c.*210G>C ENSP00000489512.2:n.*210G>C
ENST00000634308.1:c.2143G>C ENSP00000489234.1:p.Ala715Pro
ENST00000634620.1:n.3175G>C
ENST00000634810.1:n.1722G>C
ENST00000634844.1:c.2233G>C ENSP00000489398.1:p.Ala745Pro
ENST00000635406.1:n.212-11108G>C
ENST00000673772.1:c.2143G>C ENSP00000501168.1:p.Ala715Pro
ENST00000673864.2:c.*1121G>C ENSP00000501045.2:n.*1121G>C
ENST00000674147.1:c.1447G>C ENSP00000500964.1:p.Ala483Pro
ENST00000674147.2:c.1891G>C ENSP00000500964.2:p.Ala631Pro
XM_005266423.2:c.2281G>C XP_005266480.1:p.Ala761Pro
XM_005266424.3:c.2281G>C XP_005266481.1:p.Ala761Pro
XM_005266424.4:c.2281G>C XP_005266481.1:p.Ala761Pro
XM_005266427.2:c.2143G>C XP_005266484.1:p.Ala715Pro
XM_005266428.1:c.2125G>C XP_005266485.1:p.Ala709Pro
XM_005266430.3:c.2377G>C XP_005266487.1:p.Ala793Pro
XM_005266430.4:c.2377G>C XP_005266487.1:p.Ala793Pro
XM_005266431.2:c.2341G>C XP_005266488.1:p.Ala781Pro
XM_005266431.4:c.2341G>C XP_005266488.1:p.Ala781Pro
XM_005266432.2:c.1891G>C XP_005266489.1:p.Ala631Pro
XM_006719837.2:c.2281G>C XP_006719900.1:p.Ala761Pro
XM_006719837.3:c.2281G>C XP_006719900.1:p.Ala761Pro
XM_006719838.1:c.193G>C XP_006719901.1:p.Ala65Pro
XM_006719839.1:c.193G>C XP_006719902.1:p.Ala65Pro
XM_011535117.1:c.2281G>C XP_011533419.1:p.Ala761Pro
XM_011535117.3:c.2281G>C XP_011533419.1:p.Ala761Pro
XM_011535118.1:c.2377G>C XP_011533420.1:p.Ala793Pro
XM_011535119.1:c.2377G>C XP_011533421.1:p.Ala793Pro
XM_011535120.1:c.1963G>C XP_011533422.1:p.Ala655Pro
XM_011535121.1:c.2377G>C XP_011533423.1:p.Ala793Pro
XM_011535122.1:c.1045G>C XP_011533424.1:p.Ala349Pro
XM_017020627.1:c.2281G>C XP_016876116.1:p.Ala761Pro
XR_941601.1:n.2596G>C
XR_941602.1:n.2596G>C
XR_941603.1:n.2596G>C
XR_941604.1:n.2596G>C