Canonical Allele Identifier: CA4610693

Gene: MCPH1

Linked Data

• ClinVar Variation Id: 1336807
• ClinVar RCV Id: RCV001819293 ; RCV002542558
• dbSNP Id: rs377464331
• ExAC: 8:6312732 A / G
• gnomAD v2: 8-6312732-A-G
• gnomAD v3: 8-6455211-A-G
• gnomAD v4: 8-6455211-A-G
• MyVariant Identifiers: chr8:g.6312732A>G (hg19) ; chr8:g.6455211A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6455211A>G , CM000670.2:g.6455211A>G	GRCh38
NC_000008.10:g.6312732A>G , CM000670.1:g.6312732A>G	GRCh37
NC_000008.9:g.6300140A>G	NCBI36
NG_016619.1:g.53620A>G
NG_016619.2:g.53620A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522020.2:n.10A>G
ENST00000687720.1:c.*1842A>G	ENSP00000510728.1:n.*1842A>G
ENST00000687874.1:n.754A>G
ENST00000688101.1:c.1314A>G
ENST00000688388.1:c.1894A>G	ENSP00000510092.1:p.Lys632Glu
ENST00000688658.1:n.734A>G
ENST00000688912.1:n.1905A>G
ENST00000689348.1:c.1894A>G	ENSP00000509554.1:p.Lys632Glu
ENST00000689633.1:c.1894A>G	ENSP00000509054.1:p.Lys632Glu
ENST00000689736.1:c.739A>G	ENSP00000509722.1:p.Lys247Glu
ENST00000690159.1:c.*2173A>G	ENSP00000510482.1:n.*2173A>G
ENST00000690708.1:c.739A>G	ENSP00000510400.1:p.Lys247Glu
ENST00000690826.1:c.1894A>G	ENSP00000510536.1:p.Lys632Glu
ENST00000691435.1:c.1894A>G	ENSP00000510652.1:p.Lys632Glu
ENST00000691655.1:c.*749A>G	ENSP00000509652.1:n.*749A>G
ENST00000692534.1:c.272A>G
ENST00000692836.1:c.1894A>G	ENSP00000509971.1:p.Lys632Glu
ENST00000692938.1:c.1894A>G	ENSP00000509072.1:p.Lys632Glu
ENST00000693231.1:c.*1634A>G	ENSP00000510764.1:n.*1634A>G
ENST00000693528.1:n.127A>G
ENST00000344683.10:c.1894A>G MANE Select	ENSP00000342924.5:p.Lys632Glu
ENST00000344683.9:c.1894A>G	ENSP00000342924.5:p.Lys632Glu
ENST00000522020.1:n.10A>G
NM_024596.3:c.1894A>G	NP_078872.2:p.Lys632Glu
XM_011534755.1:c.1894A>G	XP_011533057.1:p.Lys632Glu
XM_011534756.1:c.1894A>G	XP_011533058.1:p.Lys632Glu
XM_011534757.1:c.1894A>G	XP_011533059.1:p.Lys632Glu
XM_011534758.1:c.1894A>G	XP_011533060.1:p.Lys632Glu
XM_011534759.1:c.1894A>G	XP_011533061.1:p.Lys632Glu
XM_011534760.1:c.1369A>G	XP_011533062.1:p.Lys457Glu
NM_001322042.1:c.1894A>G	NP_001308971.1:p.Lys632Glu
NM_001363979.1:c.1894A>G	NP_001350908.1:p.Lys632Glu
NM_001363980.1:c.1894A>G	NP_001350909.1:p.Lys632Glu
NM_024596.4:c.1894A>G	NP_078872.2:p.Lys632Glu
XM_011534755.3:c.1894A>G	XP_011533057.1:p.Lys632Glu
XM_011534756.3:c.1894A>G	XP_011533058.1:p.Lys632Glu
XM_011534757.3:c.1894A>G	XP_011533059.1:p.Lys632Glu
XM_011534758.3:c.1894A>G	XP_011533060.1:p.Lys632Glu
XM_011534759.3:c.1894A>G	XP_011533061.1:p.Lys632Glu
XM_011534760.2:c.1369A>G	XP_011533062.1:p.Lys457Glu
XM_017013829.2:c.1894A>G	XP_016869318.1:p.Lys632Glu
XM_017013831.2:c.1894A>G	XP_016869320.1:p.Lys632Glu
XM_017013832.2:c.1894A>G	XP_016869321.1:p.Lys632Glu
XM_017013833.2:c.1894A>G	XP_016869322.1:p.Lys632Glu
XR_001745596.2:n.1947A>G
NM_024596.5:c.1894A>G MANE Select	NP_078872.3:p.Lys632Glu
NM_001322042.2:c.1894A>G	NP_001308971.2:p.Lys632Glu
NM_001363980.2:c.1894A>G	NP_001350909.1:p.Lys632Glu