Canonical Allele Identifier: CA1630835036
Community Standard Title: NM_024596.5(MCPH1):c.940G= (p.Asp314=)
Gene: MCPH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6444662G= , CM000670.2:g.6444662G= GRCh38
NC_000008.10:g.6302183G= , CM000670.1:g.6302183G= GRCh37
NC_000008.9:g.6289591G= NCBI36
NG_016619.1:g.43071G=
NG_016619.2:g.43071G=

Transcript Alleles

HGVS Amino-acid Change
NM_024596.5:c.940G= MANE Select NP_078872.3:p.Asp314=
ENST00000344683.10:c.940G= MANE Select ENSP00000342924.5:p.Asp314=
NM_001172574.1:c.940G= NP_001166045.1:p.Asp314=
NM_001172574.2:c.940G= NP_001166045.2:p.Asp314=
NM_001172575.1:c.796G= NP_001166046.1:p.Asp266=
NM_001172575.2:c.796G= NP_001166046.1:p.Asp266=
NM_001322042.1:c.940G= NP_001308971.1:p.Asp314=
NM_001322042.2:c.940G= NP_001308971.2:p.Asp314=
NM_001322043.1:c.934G= NP_001308972.1:p.Asp312=
NM_001322043.2:c.934G= NP_001308972.2:p.Asp312=
NM_001322045.1:c.838G= NP_001308974.1:p.Asp280=
NM_001322045.2:c.838G= NP_001308974.2:p.Asp280=
NM_001363979.1:c.940G= NP_001350908.1:p.Asp314=
NM_001363980.1:c.940G= NP_001350909.1:p.Asp314=
NM_001363980.2:c.940G= NP_001350909.1:p.Asp314=
NM_024596.3:c.940G= NP_078872.2:p.Asp314=
NM_024596.4:c.940G= NP_078872.2:p.Asp314=
NR_136159.1:n.901G=
NR_136159.2:n.866G=
ENST00000344683.9:c.940G= ENSP00000342924.5:p.Asp314=
ENST00000519480.5:c.940G= ENSP00000430962.1:p.Asp314=
ENST00000519480.6:c.940G= ENSP00000430962.1:p.Asp314=
ENST00000522905.1:c.796G= ENSP00000430768.1:p.Asp266=
ENST00000685179.1:c.934G= ENSP00000510001.1:p.Asp312=
ENST00000686750.1:c.850G= ENSP00000509053.1:p.Asp284=
ENST00000687577.1:n.2501G=
ENST00000687720.1:c.*888G= ENSP00000510728.1:n.*888G=
ENST00000687874.1:n.685+2506G=
ENST00000688099.1:c.*1219G= ENSP00000509622.1:n.*1219G=
ENST00000688101.1:c.360G=
ENST00000688388.1:c.940G= ENSP00000510092.1:p.Asp314=
ENST00000688452.1:c.*459G= ENSP00000510556.1:n.*459G=
ENST00000688912.1:n.951G=
ENST00000689348.1:c.940G= ENSP00000509554.1:p.Asp314=
ENST00000689633.1:c.940G= ENSP00000509054.1:p.Asp314=
ENST00000689736.1:c.670+2506G= ENSP00000509722.1:n.670+2506G=
ENST00000690159.1:c.*1219G= ENSP00000510482.1:n.*1219G=
ENST00000690518.1:c.*680G= ENSP00000509135.1:n.*680G=
ENST00000690682.1:c.*835G= ENSP00000509896.1:n.*835G=
ENST00000690708.1:c.670+2506G= ENSP00000510400.1:n.670+2506G=
ENST00000690826.1:c.940G= ENSP00000510536.1:p.Asp314=
ENST00000691435.1:c.940G= ENSP00000510652.1:p.Asp314=
ENST00000691655.1:c.*680+2506G= ENSP00000509652.1:n.*680+2506G=
ENST00000691738.1:n.1148G=
ENST00000692534.1:c.203+157G=
ENST00000692836.1:c.940G= ENSP00000509971.1:p.Asp314=
ENST00000692938.1:c.940G= ENSP00000509072.1:p.Asp314=
ENST00000693231.1:c.*680G= ENSP00000510764.1:n.*680G=
XM_011534755.1:c.940G= XP_011533057.1:p.Asp314=
XM_011534755.3:c.940G= XP_011533057.1:p.Asp314=
XM_011534756.1:c.940G= XP_011533058.1:p.Asp314=
XM_011534756.3:c.940G= XP_011533058.1:p.Asp314=
XM_011534757.1:c.940G= XP_011533059.1:p.Asp314=
XM_011534757.3:c.940G= XP_011533059.1:p.Asp314=
XM_011534758.1:c.940G= XP_011533060.1:p.Asp314=
XM_011534758.3:c.940G= XP_011533060.1:p.Asp314=
XM_011534759.1:c.940G= XP_011533061.1:p.Asp314=
XM_011534759.3:c.940G= XP_011533061.1:p.Asp314=
XM_011534760.1:c.415G= XP_011533062.1:p.Asp139=
XM_011534760.2:c.415G= XP_011533062.1:p.Asp139=
XM_017013829.2:c.940G= XP_016869318.1:p.Asp314=
XM_017013831.2:c.940G= XP_016869320.1:p.Asp314=
XM_017013832.2:c.940G= XP_016869321.1:p.Asp314=
XM_017013833.2:c.940G= XP_016869322.1:p.Asp314=
XR_001745596.2:n.993G=