Canonical Allele Identifier: CA4610768

Gene: MCPH1

Linked Data

• ClinVar Variation Id: 1571786
• ClinVar RCV Id: RCV002219277
• dbSNP Id: rs762333683
• ExAC: 8:6338225 G / A
• gnomAD v2: 8-6338225-G-A
• gnomAD v3: 8-6480704-G-A
• gnomAD v4: 8-6480704-G-A
• MyVariant Identifiers: chr8:g.6338225G>A (hg19) ; chr8:g.6480704G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6480704G>A , CM000670.2:g.6480704G>A	GRCh38
NC_000008.10:g.6338225G>A , CM000670.1:g.6338225G>A	GRCh37
NC_000008.9:g.6325633G>A	NCBI36
NG_016619.1:g.79113G>A
NG_016619.2:g.79113G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000519221.6:n.200-10G>A
ENST00000521129.2:c.21-10G>A	ENSP00000509664.1:n.21-10G>A
ENST00000521175.2:n.697-10G>A
ENST00000522020.2:n.52-13420G>A
ENST00000687324.1:n.912-10G>A
ENST00000687413.1:c.63-10G>A	ENSP00000510583.1:n.63-10G>A
ENST00000687720.1:c.*1922-10G>A	ENSP00000510728.1:n.*1922-10G>A
ENST00000688101.1:c.2131-10G>A
ENST00000688388.1:c.1974-17G>A	ENSP00000510092.1:n.1974-17G>A
ENST00000688912.1:n.1985-10G>A
ENST00000689148.1:n.934-10G>A
ENST00000689348.1:c.1974-10G>A	ENSP00000509554.1:n.1974-10G>A
ENST00000689633.1:c.1935+25452G>A	ENSP00000509054.1:n.1935+25452G>A
ENST00000689736.1:c.781-19148G>A	ENSP00000509722.1:n.781-19148G>A
ENST00000690159.1:c.*2253-10G>A	ENSP00000510482.1:n.*2253-10G>A
ENST00000690708.1:c.819-10G>A	ENSP00000510400.1:n.819-10G>A
ENST00000690826.1:c.1974-10G>A	ENSP00000510536.1:n.1974-10G>A
ENST00000691435.1:c.1974-10G>A	ENSP00000510652.1:n.1974-10G>A
ENST00000691655.1:c.*911-10G>A	ENSP00000509652.1:n.*911-10G>A
ENST00000692836.1:c.1974-10G>A	ENSP00000509971.1:n.1974-10G>A
ENST00000692938.1:c.1974-10G>A	ENSP00000509072.1:n.1974-10G>A
ENST00000693231.1:c.*1675+25452G>A	ENSP00000510764.1:n.*1675+25452G>A
ENST00000693528.1:n.207-10G>A
ENST00000344683.10:c.1974-10G>A MANE Select	ENSP00000342924.5:n.1974-10G>A
ENST00000344683.9:c.1974-10G>A	ENSP00000342924.5:n.1974-10G>A
ENST00000519221.5:n.81-10G>A
ENST00000521129.1:n.132-10G>A
ENST00000522020.1:n.52-13420G>A
NM_024596.3:c.1974-10G>A	NP_078872.2:n.1974-10G>A
XM_011534755.1:c.1974-10G>A	XP_011533057.1:n.1974-10G>A
XM_011534756.1:c.1974-10G>A	XP_011533058.1:n.1974-10G>A
XM_011534757.1:c.1974-10G>A	XP_011533059.1:n.1974-10G>A
XM_011534758.1:c.1974-10G>A	XP_011533060.1:n.1974-10G>A
XM_011534759.1:c.1974-10G>A	XP_011533061.1:n.1974-10G>A
XM_011534760.1:c.1449-10G>A	XP_011533062.1:n.1449-10G>A
NM_001322042.1:c.1974-10G>A	NP_001308971.1:n.1974-10G>A
NM_001363979.1:c.1974-10G>A	NP_001350908.1:n.1974-10G>A
NM_001363980.1:c.1935+25452G>A	NP_001350909.1:n.1935+25452G>A
NM_024596.4:c.1974-10G>A	NP_078872.2:n.1974-10G>A
XM_011534755.3:c.1974-10G>A	XP_011533057.1:n.1974-10G>A
XM_011534756.3:c.1974-10G>A	XP_011533058.1:n.1974-10G>A
XM_011534757.3:c.1974-10G>A	XP_011533059.1:n.1974-10G>A
XM_011534758.3:c.1974-10G>A	XP_011533060.1:n.1974-10G>A
XM_011534759.3:c.1974-10G>A	XP_011533061.1:n.1974-10G>A
XM_011534760.2:c.1449-10G>A	XP_011533062.1:n.1449-10G>A
XM_017013829.2:c.1974-10G>A	XP_016869318.1:n.1974-10G>A
XM_017013831.2:c.1936-19148G>A	XP_016869320.1:n.1936-19148G>A
XM_017013832.2:c.1935+25452G>A	XP_016869321.1:n.1935+25452G>A
XM_017013833.2:c.1974-10G>A	XP_016869322.1:n.1974-10G>A
XR_001745596.2:n.2027-10G>A
NM_024596.5:c.1974-10G>A MANE Select	NP_078872.3:n.1974-10G>A
NM_001322042.2:c.1974-10G>A	NP_001308971.2:n.1974-10G>A
NM_001363980.2:c.1935+25452G>A	NP_001350909.1:n.1935+25452G>A