Canonical Allele Identifier: CA4610767

Gene: MCPH1

Linked Data

• ClinVar Variation Id: 1912691
• ClinVar RCV Id: RCV002608140
• dbSNP Id: rs142511535
• ExAC: 8:6338224 C / T
• gnomAD v2: 8-6338224-C-T
• gnomAD v3: 8-6480703-C-T
• gnomAD v4: 8-6480703-C-T
• MyVariant Identifiers: chr8:g.6338224C>T (hg19) ; chr8:g.6480703C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6480703C>T , CM000670.2:g.6480703C>T	GRCh38
NC_000008.10:g.6338224C>T , CM000670.1:g.6338224C>T	GRCh37
NC_000008.9:g.6325632C>T	NCBI36
NG_016619.1:g.79112C>T
NG_016619.2:g.79112C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000519221.6:n.200-11C>T
ENST00000521129.2:c.21-11C>T	ENSP00000509664.1:n.21-11C>T
ENST00000521175.2:n.697-11C>T
ENST00000522020.2:n.52-13421C>T
ENST00000687324.1:n.912-11C>T
ENST00000687413.1:c.63-11C>T	ENSP00000510583.1:n.63-11C>T
ENST00000687720.1:c.*1922-11C>T	ENSP00000510728.1:n.*1922-11C>T
ENST00000688101.1:c.2131-11C>T
ENST00000688388.1:c.1974-18C>T	ENSP00000510092.1:n.1974-18C>T
ENST00000688912.1:n.1985-11C>T
ENST00000689148.1:n.934-11C>T
ENST00000689348.1:c.1974-11C>T	ENSP00000509554.1:n.1974-11C>T
ENST00000689633.1:c.1935+25451C>T	ENSP00000509054.1:n.1935+25451C>T
ENST00000689736.1:c.781-19149C>T	ENSP00000509722.1:n.781-19149C>T
ENST00000690159.1:c.*2253-11C>T	ENSP00000510482.1:n.*2253-11C>T
ENST00000690708.1:c.819-11C>T	ENSP00000510400.1:n.819-11C>T
ENST00000690826.1:c.1974-11C>T	ENSP00000510536.1:n.1974-11C>T
ENST00000691435.1:c.1974-11C>T	ENSP00000510652.1:n.1974-11C>T
ENST00000691655.1:c.*911-11C>T	ENSP00000509652.1:n.*911-11C>T
ENST00000692836.1:c.1974-11C>T	ENSP00000509971.1:n.1974-11C>T
ENST00000692938.1:c.1974-11C>T	ENSP00000509072.1:n.1974-11C>T
ENST00000693231.1:c.*1675+25451C>T	ENSP00000510764.1:n.*1675+25451C>T
ENST00000693528.1:n.207-11C>T
ENST00000344683.10:c.1974-11C>T MANE Select	ENSP00000342924.5:n.1974-11C>T
ENST00000344683.9:c.1974-11C>T	ENSP00000342924.5:n.1974-11C>T
ENST00000519221.5:n.81-11C>T
ENST00000521129.1:n.132-11C>T
ENST00000522020.1:n.52-13421C>T
NM_024596.3:c.1974-11C>T	NP_078872.2:n.1974-11C>T
XM_011534755.1:c.1974-11C>T	XP_011533057.1:n.1974-11C>T
XM_011534756.1:c.1974-11C>T	XP_011533058.1:n.1974-11C>T
XM_011534757.1:c.1974-11C>T	XP_011533059.1:n.1974-11C>T
XM_011534758.1:c.1974-11C>T	XP_011533060.1:n.1974-11C>T
XM_011534759.1:c.1974-11C>T	XP_011533061.1:n.1974-11C>T
XM_011534760.1:c.1449-11C>T	XP_011533062.1:n.1449-11C>T
NM_001322042.1:c.1974-11C>T	NP_001308971.1:n.1974-11C>T
NM_001363979.1:c.1974-11C>T	NP_001350908.1:n.1974-11C>T
NM_001363980.1:c.1935+25451C>T	NP_001350909.1:n.1935+25451C>T
NM_024596.4:c.1974-11C>T	NP_078872.2:n.1974-11C>T
XM_011534755.3:c.1974-11C>T	XP_011533057.1:n.1974-11C>T
XM_011534756.3:c.1974-11C>T	XP_011533058.1:n.1974-11C>T
XM_011534757.3:c.1974-11C>T	XP_011533059.1:n.1974-11C>T
XM_011534758.3:c.1974-11C>T	XP_011533060.1:n.1974-11C>T
XM_011534759.3:c.1974-11C>T	XP_011533061.1:n.1974-11C>T
XM_011534760.2:c.1449-11C>T	XP_011533062.1:n.1449-11C>T
XM_017013829.2:c.1974-11C>T	XP_016869318.1:n.1974-11C>T
XM_017013831.2:c.1936-19149C>T	XP_016869320.1:n.1936-19149C>T
XM_017013832.2:c.1935+25451C>T	XP_016869321.1:n.1935+25451C>T
XM_017013833.2:c.1974-11C>T	XP_016869322.1:n.1974-11C>T
XR_001745596.2:n.2027-11C>T
NM_024596.5:c.1974-11C>T MANE Select	NP_078872.3:n.1974-11C>T
NM_001322042.2:c.1974-11C>T	NP_001308971.2:n.1974-11C>T
NM_001363980.2:c.1935+25451C>T	NP_001350909.1:n.1935+25451C>T