Canonical Allele Identifier: CA4610688

Gene: MCPH1

Linked Data

• ClinVar Variation Id: 3021738
• ClinVar RCV Id: RCV003880321
• dbSNP Id: rs779008133
• ExAC: 8:6312713 C / T
• gnomAD v2: 8-6312713-C-T
• gnomAD v3: 8-6455192-C-T
• gnomAD v4: 8-6455192-C-T
• MyVariant Identifiers: chr8:g.6312713C>T (hg19) ; chr8:g.6455192C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6455192C>T , CM000670.2:g.6455192C>T	GRCh38
NC_000008.10:g.6312713C>T , CM000670.1:g.6312713C>T	GRCh37
NC_000008.9:g.6300121C>T	NCBI36
NG_016619.1:g.53601C>T
NG_016619.2:g.53601C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687720.1:c.*1823C>T	ENSP00000510728.1:n.*1823C>T
ENST00000687874.1:n.735C>T
ENST00000688101.1:c.1295C>T
ENST00000688388.1:c.1875C>T	ENSP00000510092.1:p.Asp625=
ENST00000688658.1:n.715C>T
ENST00000688912.1:n.1886C>T
ENST00000689348.1:c.1875C>T	ENSP00000509554.1:p.Asp625=
ENST00000689633.1:c.1875C>T	ENSP00000509054.1:p.Asp625=
ENST00000689736.1:c.720C>T	ENSP00000509722.1:p.Asp240=
ENST00000690159.1:c.*2154C>T	ENSP00000510482.1:n.*2154C>T
ENST00000690708.1:c.720C>T	ENSP00000510400.1:p.Asp240=
ENST00000690826.1:c.1875C>T	ENSP00000510536.1:p.Asp625=
ENST00000691435.1:c.1875C>T	ENSP00000510652.1:p.Asp625=
ENST00000691655.1:c.*730C>T	ENSP00000509652.1:n.*730C>T
ENST00000692534.1:c.253C>T
ENST00000692836.1:c.1875C>T	ENSP00000509971.1:p.Asp625=
ENST00000692938.1:c.1875C>T	ENSP00000509072.1:p.Asp625=
ENST00000693231.1:c.*1615C>T	ENSP00000510764.1:n.*1615C>T
ENST00000693528.1:n.108C>T
ENST00000344683.10:c.1875C>T MANE Select	ENSP00000342924.5:p.Asp625=
ENST00000344683.9:c.1875C>T	ENSP00000342924.5:p.Asp625=
NM_024596.3:c.1875C>T	NP_078872.2:p.Asp625=
XM_011534755.1:c.1875C>T	XP_011533057.1:p.Asp625=
XM_011534756.1:c.1875C>T	XP_011533058.1:p.Asp625=
XM_011534757.1:c.1875C>T	XP_011533059.1:p.Asp625=
XM_011534758.1:c.1875C>T	XP_011533060.1:p.Asp625=
XM_011534759.1:c.1875C>T	XP_011533061.1:p.Asp625=
XM_011534760.1:c.1350C>T	XP_011533062.1:p.Asp450=
NM_001322042.1:c.1875C>T	NP_001308971.1:p.Asp625=
NM_001363979.1:c.1875C>T	NP_001350908.1:p.Asp625=
NM_001363980.1:c.1875C>T	NP_001350909.1:p.Asp625=
NM_024596.4:c.1875C>T	NP_078872.2:p.Asp625=
XM_011534755.3:c.1875C>T	XP_011533057.1:p.Asp625=
XM_011534756.3:c.1875C>T	XP_011533058.1:p.Asp625=
XM_011534757.3:c.1875C>T	XP_011533059.1:p.Asp625=
XM_011534758.3:c.1875C>T	XP_011533060.1:p.Asp625=
XM_011534759.3:c.1875C>T	XP_011533061.1:p.Asp625=
XM_011534760.2:c.1350C>T	XP_011533062.1:p.Asp450=
XM_017013829.2:c.1875C>T	XP_016869318.1:p.Asp625=
XM_017013831.2:c.1875C>T	XP_016869320.1:p.Asp625=
XM_017013832.2:c.1875C>T	XP_016869321.1:p.Asp625=
XM_017013833.2:c.1875C>T	XP_016869322.1:p.Asp625=
XR_001745596.2:n.1928C>T
NM_024596.5:c.1875C>T MANE Select	NP_078872.3:p.Asp625=
NM_001322042.2:c.1875C>T	NP_001308971.2:p.Asp625=
NM_001363980.2:c.1875C>T	NP_001350909.1:p.Asp625=