Canonical Allele Identifier: CA4610672

Gene: MCPH1

Linked Data

• dbSNP Id: rs748403652
• ExAC: 8:6312664 G / A
• gnomAD v2: 8-6312664-G-A
• gnomAD v4: 8-6455143-G-A
• MyVariant Identifiers: chr8:g.6312664G>A (hg19) ; chr8:g.6455143G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6455143G>A , CM000670.2:g.6455143G>A	GRCh38
NC_000008.10:g.6312664G>A , CM000670.1:g.6312664G>A	GRCh37
NC_000008.9:g.6300072G>A	NCBI36
NG_016619.1:g.53552G>A
NG_016619.2:g.53552G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687720.1:c.*1774G>A	ENSP00000510728.1:n.*1774G>A
ENST00000687874.1:n.686G>A
ENST00000688101.1:c.1246G>A
ENST00000688388.1:c.1826G>A	ENSP00000510092.1:p.Ser609Asn
ENST00000688658.1:n.666G>A
ENST00000688912.1:n.1837G>A
ENST00000689348.1:c.1826G>A	ENSP00000509554.1:p.Ser609Asn
ENST00000689633.1:c.1826G>A	ENSP00000509054.1:p.Ser609Asn
ENST00000689736.1:c.671G>A	ENSP00000509722.1:p.Gly224Asp
ENST00000690159.1:c.*2105G>A	ENSP00000510482.1:n.*2105G>A
ENST00000690708.1:c.671G>A	ENSP00000510400.1:p.Gly224Asp
ENST00000690826.1:c.1826G>A	ENSP00000510536.1:p.Ser609Asn
ENST00000691435.1:c.1826G>A	ENSP00000510652.1:p.Ser609Asn
ENST00000691655.1:c.*681G>A	ENSP00000509652.1:n.*681G>A
ENST00000692534.1:c.204G>A
ENST00000692836.1:c.1826G>A	ENSP00000509971.1:p.Ser609Asn
ENST00000692938.1:c.1826G>A	ENSP00000509072.1:p.Ser609Asn
ENST00000693231.1:c.*1566G>A	ENSP00000510764.1:n.*1566G>A
ENST00000693528.1:n.59G>A
ENST00000344683.10:c.1826G>A MANE Select	ENSP00000342924.5:p.Ser609Asn
ENST00000344683.9:c.1826G>A	ENSP00000342924.5:p.Ser609Asn
NM_024596.3:c.1826G>A	NP_078872.2:p.Ser609Asn
XM_011534755.1:c.1826G>A	XP_011533057.1:p.Ser609Asn
XM_011534756.1:c.1826G>A	XP_011533058.1:p.Ser609Asn
XM_011534757.1:c.1826G>A	XP_011533059.1:p.Ser609Asn
XM_011534758.1:c.1826G>A	XP_011533060.1:p.Ser609Asn
XM_011534759.1:c.1826G>A	XP_011533061.1:p.Ser609Asn
XM_011534760.1:c.1301G>A	XP_011533062.1:p.Ser434Asn
NM_001322042.1:c.1826G>A	NP_001308971.1:p.Ser609Asn
NM_001363979.1:c.1826G>A	NP_001350908.1:p.Ser609Asn
NM_001363980.1:c.1826G>A	NP_001350909.1:p.Ser609Asn
NM_024596.4:c.1826G>A	NP_078872.2:p.Ser609Asn
XM_011534755.3:c.1826G>A	XP_011533057.1:p.Ser609Asn
XM_011534756.3:c.1826G>A	XP_011533058.1:p.Ser609Asn
XM_011534757.3:c.1826G>A	XP_011533059.1:p.Ser609Asn
XM_011534758.3:c.1826G>A	XP_011533060.1:p.Ser609Asn
XM_011534759.3:c.1826G>A	XP_011533061.1:p.Ser609Asn
XM_011534760.2:c.1301G>A	XP_011533062.1:p.Ser434Asn
XM_017013829.2:c.1826G>A	XP_016869318.1:p.Ser609Asn
XM_017013831.2:c.1826G>A	XP_016869320.1:p.Ser609Asn
XM_017013832.2:c.1826G>A	XP_016869321.1:p.Ser609Asn
XM_017013833.2:c.1826G>A	XP_016869322.1:p.Ser609Asn
XR_001745596.2:n.1879G>A
NM_024596.5:c.1826G>A MANE Select	NP_078872.3:p.Ser609Asn
NM_001322042.2:c.1826G>A	NP_001308971.2:p.Ser609Asn
NM_001363980.2:c.1826G>A	NP_001350909.1:p.Ser609Asn