Canonical Allele Identifier: CA248230

Gene: MCPH1

Linked Data

• ClinVar Variation Id: 199171
• ClinVar RCV Id: RCV003372638 ; RCV000724059
• dbSNP Id: rs201848494
• ExAC: 8:6312768 A / G
• gnomAD v2: 8-6312768-A-G
• gnomAD v3: 8-6455247-A-G
• gnomAD v4: 8-6455247-A-G
• MyVariant Identifiers: chr8:g.6312768A>G (hg19) ; chr8:g.6455247A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6455247A>G , CM000670.2:g.6455247A>G	GRCh38
NC_000008.10:g.6312768A>G , CM000670.1:g.6312768A>G	GRCh37
NC_000008.9:g.6300176A>G	NCBI36
NG_016619.1:g.53656A>G
NG_016619.2:g.53656A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000522020.2:n.46A>G
ENST00000687720.1:c.*1878A>G	ENSP00000510728.1:n.*1878A>G
ENST00000687874.1:n.790A>G
ENST00000688101.1:c.1350A>G
ENST00000688388.1:c.1930A>G	ENSP00000510092.1:p.Lys644Glu
ENST00000688658.1:n.770A>G
ENST00000688912.1:n.1941A>G
ENST00000689348.1:c.1930A>G	ENSP00000509554.1:p.Lys644Glu
ENST00000689633.1:c.1930A>G	ENSP00000509054.1:p.Lys644Glu
ENST00000689736.1:c.775A>G	ENSP00000509722.1:p.Lys259Glu
ENST00000690159.1:c.*2209A>G	ENSP00000510482.1:n.*2209A>G
ENST00000690708.1:c.775A>G	ENSP00000510400.1:p.Lys259Glu
ENST00000690826.1:c.1930A>G	ENSP00000510536.1:p.Lys644Glu
ENST00000691435.1:c.1930A>G	ENSP00000510652.1:p.Lys644Glu
ENST00000691655.1:c.*785A>G	ENSP00000509652.1:n.*785A>G
ENST00000692534.1:c.308A>G
ENST00000692836.1:c.1930A>G	ENSP00000509971.1:p.Lys644Glu
ENST00000692938.1:c.1930A>G	ENSP00000509072.1:p.Lys644Glu
ENST00000693231.1:c.*1670A>G	ENSP00000510764.1:n.*1670A>G
ENST00000693528.1:n.163A>G
ENST00000344683.10:c.1930A>G MANE Select	ENSP00000342924.5:p.Lys644Glu
ENST00000344683.9:c.1930A>G	ENSP00000342924.5:p.Lys644Glu
ENST00000522020.1:n.46A>G
NM_024596.3:c.1930A>G	NP_078872.2:p.Lys644Glu
XM_011534755.1:c.1930A>G	XP_011533057.1:p.Lys644Glu
XM_011534756.1:c.1930A>G	XP_011533058.1:p.Lys644Glu
XM_011534757.1:c.1930A>G	XP_011533059.1:p.Lys644Glu
XM_011534758.1:c.1930A>G	XP_011533060.1:p.Lys644Glu
XM_011534759.1:c.1930A>G	XP_011533061.1:p.Lys644Glu
XM_011534760.1:c.1405A>G	XP_011533062.1:p.Lys469Glu
NM_001322042.1:c.1930A>G	NP_001308971.1:p.Lys644Glu
NM_001363979.1:c.1930A>G	NP_001350908.1:p.Lys644Glu
NM_001363980.1:c.1930A>G	NP_001350909.1:p.Lys644Glu
NM_024596.4:c.1930A>G	NP_078872.2:p.Lys644Glu
XM_011534755.3:c.1930A>G	XP_011533057.1:p.Lys644Glu
XM_011534756.3:c.1930A>G	XP_011533058.1:p.Lys644Glu
XM_011534757.3:c.1930A>G	XP_011533059.1:p.Lys644Glu
XM_011534758.3:c.1930A>G	XP_011533060.1:p.Lys644Glu
XM_011534759.3:c.1930A>G	XP_011533061.1:p.Lys644Glu
XM_011534760.2:c.1405A>G	XP_011533062.1:p.Lys469Glu
XM_017013829.2:c.1930A>G	XP_016869318.1:p.Lys644Glu
XM_017013831.2:c.1930A>G	XP_016869320.1:p.Lys644Glu
XM_017013832.2:c.1930A>G	XP_016869321.1:p.Lys644Glu
XM_017013833.2:c.1930A>G	XP_016869322.1:p.Lys644Glu
XR_001745596.2:n.1983A>G
NM_024596.5:c.1930A>G MANE Select	NP_078872.3:p.Lys644Glu
NM_001322042.2:c.1930A>G	NP_001308971.2:p.Lys644Glu
NM_001363980.2:c.1930A>G	NP_001350909.1:p.Lys644Glu