Canonical Allele Identifier: CA4610561

Gene: MCPH1

Linked Data

• ClinVar Variation Id: 2998943
• ClinVar RCV Id: RCV003859590
• dbSNP Id: rs369806832
• ExAC: 8:6302696 C / A
• gnomAD v2: 8-6302696-C-A
• gnomAD v3: 8-6445175-C-A
• gnomAD v4: 8-6445175-C-A
• MyVariant Identifiers: chr8:g.6302696C>A (hg19) ; chr8:g.6445175C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6445175C>A , CM000670.2:g.6445175C>A	GRCh38
NC_000008.10:g.6302696C>A , CM000670.1:g.6302696C>A	GRCh37
NC_000008.9:g.6290104C>A	NCBI36
NG_016619.1:g.43584C>A
NG_016619.2:g.43584C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519480.6:c.1453C>A	ENSP00000430962.1:p.Arg485=
ENST00000685179.1:c.1447C>A	ENSP00000510001.1:p.Arg483=
ENST00000686750.1:c.1363C>A	ENSP00000509053.1:p.Arg455=
ENST00000687577.1:n.3014C>A
ENST00000687720.1:c.*1401C>A	ENSP00000510728.1:n.*1401C>A
ENST00000687874.1:n.685+3019C>A
ENST00000688099.1:c.*1732C>A	ENSP00000509622.1:n.*1732C>A
ENST00000688101.1:c.873C>A
ENST00000688388.1:c.1453C>A	ENSP00000510092.1:p.Arg485=
ENST00000688452.1:c.*972C>A	ENSP00000510556.1:n.*972C>A
ENST00000688658.1:n.293C>A
ENST00000688912.1:n.1464C>A
ENST00000689348.1:c.1453C>A	ENSP00000509554.1:p.Arg485=
ENST00000689633.1:c.1453C>A	ENSP00000509054.1:p.Arg485=
ENST00000689736.1:c.670+3019C>A	ENSP00000509722.1:n.670+3019C>A
ENST00000690159.1:c.*1732C>A	ENSP00000510482.1:n.*1732C>A
ENST00000690518.1:c.*1193C>A	ENSP00000509135.1:n.*1193C>A
ENST00000690682.1:c.*1348C>A	ENSP00000509896.1:n.*1348C>A
ENST00000690708.1:c.670+3019C>A	ENSP00000510400.1:n.670+3019C>A
ENST00000690826.1:c.1453C>A	ENSP00000510536.1:p.Arg485=
ENST00000691435.1:c.1453C>A	ENSP00000510652.1:p.Arg485=
ENST00000691655.1:c.*680+3019C>A	ENSP00000509652.1:n.*680+3019C>A
ENST00000691738.1:n.1661C>A
ENST00000692534.1:c.203+670C>A
ENST00000692836.1:c.1453C>A	ENSP00000509971.1:p.Arg485=
ENST00000692938.1:c.1453C>A	ENSP00000509072.1:p.Arg485=
ENST00000693231.1:c.*1193C>A	ENSP00000510764.1:n.*1193C>A
ENST00000344683.10:c.1453C>A MANE Select	ENSP00000342924.5:p.Arg485=
ENST00000344683.9:c.1453C>A	ENSP00000342924.5:p.Arg485=
ENST00000519480.5:c.1453C>A	ENSP00000430962.1:p.Arg485=
ENST00000522905.1:c.1309C>A	ENSP00000430768.1:p.Arg437=
NM_001172574.1:c.1453C>A	NP_001166045.1:p.Arg485=
NM_001172575.1:c.1309C>A	NP_001166046.1:p.Arg437=
NM_024596.3:c.1453C>A	NP_078872.2:p.Arg485=
XM_011534755.1:c.1453C>A	XP_011533057.1:p.Arg485=
XM_011534756.1:c.1453C>A	XP_011533058.1:p.Arg485=
XM_011534757.1:c.1453C>A	XP_011533059.1:p.Arg485=
XM_011534758.1:c.1453C>A	XP_011533060.1:p.Arg485=
XM_011534759.1:c.1453C>A	XP_011533061.1:p.Arg485=
XM_011534760.1:c.928C>A	XP_011533062.1:p.Arg310=
NM_001322042.1:c.1453C>A	NP_001308971.1:p.Arg485=
NM_001322043.1:c.1447C>A	NP_001308972.1:p.Arg483=
NM_001322045.1:c.1351C>A	NP_001308974.1:p.Arg451=
NM_001363979.1:c.1453C>A	NP_001350908.1:p.Arg485=
NM_001363980.1:c.1453C>A	NP_001350909.1:p.Arg485=
NM_024596.4:c.1453C>A	NP_078872.2:p.Arg485=
NR_136159.1:n.1414C>A
XM_011534755.3:c.1453C>A	XP_011533057.1:p.Arg485=
XM_011534756.3:c.1453C>A	XP_011533058.1:p.Arg485=
XM_011534757.3:c.1453C>A	XP_011533059.1:p.Arg485=
XM_011534758.3:c.1453C>A	XP_011533060.1:p.Arg485=
XM_011534759.3:c.1453C>A	XP_011533061.1:p.Arg485=
XM_011534760.2:c.928C>A	XP_011533062.1:p.Arg310=
XM_017013829.2:c.1453C>A	XP_016869318.1:p.Arg485=
XM_017013831.2:c.1453C>A	XP_016869320.1:p.Arg485=
XM_017013832.2:c.1453C>A	XP_016869321.1:p.Arg485=
XM_017013833.2:c.1453C>A	XP_016869322.1:p.Arg485=
XR_001745596.2:n.1506C>A
NM_024596.5:c.1453C>A MANE Select	NP_078872.3:p.Arg485=
NM_001322042.2:c.1453C>A	NP_001308971.2:p.Arg485=
NM_001363980.2:c.1453C>A	NP_001350909.1:p.Arg485=
NM_001172574.2:c.1453C>A	NP_001166045.2:p.Arg485=
NM_001172575.2:c.1309C>A	NP_001166046.1:p.Arg437=
NM_001322043.2:c.1447C>A	NP_001308972.2:p.Arg483=
NM_001322045.2:c.1351C>A	NP_001308974.2:p.Arg451=
NR_136159.2:n.1379C>A