Canonical Allele Identifier: CA1760908568

Gene: MCPH1

Linked Data

• dbSNP Id: rs1129703

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6447173A>T , CM000670.2:g.6447173A>T	GRCh38
NC_000008.10:g.6304694A>T , CM000670.1:g.6304694A>T	GRCh37
NC_000008.9:g.6292102A>T	NCBI36
NG_016619.1:g.45582A>T
NG_016619.2:g.45582A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000519480.6:c.*1618A>T	ENSP00000430962.1:n.*1618A>T
ENST00000687720.1:c.*1773+1626A>T	ENSP00000510728.1:n.*1773+1626A>T
ENST00000687874.1:n.685+5017A>T
ENST00000688101.1:c.1245+1626A>T
ENST00000688388.1:c.1825+1626A>T	ENSP00000510092.1:n.1825+1626A>T
ENST00000688658.1:n.665+1626A>T
ENST00000688912.1:n.1836+1626A>T
ENST00000689348.1:c.1825+1626A>T	ENSP00000509554.1:n.1825+1626A>T
ENST00000689633.1:c.1825+1626A>T	ENSP00000509054.1:n.1825+1626A>T
ENST00000689736.1:c.670+5017A>T	ENSP00000509722.1:n.670+5017A>T
ENST00000690159.1:c.*2104+1626A>T	ENSP00000510482.1:n.*2104+1626A>T
ENST00000690708.1:c.670+5017A>T	ENSP00000510400.1:n.670+5017A>T
ENST00000690826.1:c.1825+1626A>T	ENSP00000510536.1:n.1825+1626A>T
ENST00000691435.1:c.1825+1626A>T	ENSP00000510652.1:n.1825+1626A>T
ENST00000691655.1:c.*680+5017A>T	ENSP00000509652.1:n.*680+5017A>T
ENST00000692534.1:c.203+2668A>T
ENST00000692836.1:c.1825+1626A>T	ENSP00000509971.1:n.1825+1626A>T
ENST00000692938.1:c.1825+1626A>T	ENSP00000509072.1:n.1825+1626A>T
ENST00000693231.1:c.*1565+1626A>T	ENSP00000510764.1:n.*1565+1626A>T
ENST00000693528.1:n.58+1626A>T
ENST00000344683.10:c.1825+1626A>T MANE Select	ENSP00000342924.5:n.1825+1626A>T
ENST00000344683.9:c.1825+1626A>T	ENSP00000342924.5:n.1825+1626A>T
NM_001172574.1:c.*1618A>T	NP_001166045.1:n.*1618A>T
NM_001172575.1:c.*1618A>T	NP_001166046.1:n.*1618A>T
NM_024596.3:c.1825+1626A>T	NP_078872.2:n.1825+1626A>T
XM_011534755.1:c.1825+1626A>T	XP_011533057.1:n.1825+1626A>T
XM_011534756.1:c.1825+1626A>T	XP_011533058.1:n.1825+1626A>T
XM_011534757.1:c.1825+1626A>T	XP_011533059.1:n.1825+1626A>T
XM_011534758.1:c.1825+1626A>T	XP_011533060.1:n.1825+1626A>T
XM_011534759.1:c.1825+1626A>T	XP_011533061.1:n.1825+1626A>T
XM_011534760.1:c.1300+1626A>T	XP_011533062.1:n.1300+1626A>T
NM_001322042.1:c.1825+1626A>T	NP_001308971.1:n.1825+1626A>T
NM_001322043.1:c.*1618A>T	NP_001308972.1:n.*1618A>T
NM_001322045.1:c.*1618A>T	NP_001308974.1:n.*1618A>T
NM_001363979.1:c.1825+1626A>T	NP_001350908.1:n.1825+1626A>T
NM_001363980.1:c.1825+1626A>T	NP_001350909.1:n.1825+1626A>T
NM_024596.4:c.1825+1626A>T	NP_078872.2:n.1825+1626A>T
NR_136159.1:n.3412A>T
XM_011534755.3:c.1825+1626A>T	XP_011533057.1:n.1825+1626A>T
XM_011534756.3:c.1825+1626A>T	XP_011533058.1:n.1825+1626A>T
XM_011534757.3:c.1825+1626A>T	XP_011533059.1:n.1825+1626A>T
XM_011534758.3:c.1825+1626A>T	XP_011533060.1:n.1825+1626A>T
XM_011534759.3:c.1825+1626A>T	XP_011533061.1:n.1825+1626A>T
XM_011534760.2:c.1300+1626A>T	XP_011533062.1:n.1300+1626A>T
XM_017013829.2:c.1825+1626A>T	XP_016869318.1:n.1825+1626A>T
XM_017013831.2:c.1825+1626A>T	XP_016869320.1:n.1825+1626A>T
XM_017013832.2:c.1825+1626A>T	XP_016869321.1:n.1825+1626A>T
XM_017013833.2:c.1825+1626A>T	XP_016869322.1:n.1825+1626A>T
XR_001745596.2:n.1878+1626A>T
NM_024596.5:c.1825+1626A>T MANE Select	NP_078872.3:n.1825+1626A>T
NM_001322042.2:c.1825+1626A>T	NP_001308971.2:n.1825+1626A>T
NM_001363980.2:c.1825+1626A>T	NP_001350909.1:n.1825+1626A>T
NM_001172574.2:c.*1618A>T	NP_001166045.2:n.*1618A>T
NM_001172575.2:c.*1618A>T	NP_001166046.1:n.*1618A>T
NM_001322043.2:c.*1618A>T	NP_001308972.2:n.*1618A>T
NM_001322045.2:c.*1618A>T	NP_001308974.2:n.*1618A>T
NR_136159.2:n.3377A>T