Canonical Allele Identifier: CA2739278550

Gene: MCPH1

Linked Data

• ClinVar Variation Id: 2781906
• ClinVar RCV Id: RCV003662135

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6455126A>G , CM000670.2:g.6455126A>G	GRCh38
NC_000008.10:g.6312647A>G , CM000670.1:g.6312647A>G	GRCh37
NC_000008.9:g.6300055A>G	NCBI36
NG_016619.1:g.53535A>G
NG_016619.2:g.53535A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687720.1:c.*1774-17A>G	ENSP00000510728.1:n.*1774-17A>G
ENST00000687874.1:n.686-17A>G
ENST00000688101.1:c.1246-17A>G
ENST00000688388.1:c.1826-17A>G	ENSP00000510092.1:n.1826-17A>G
ENST00000688658.1:n.666-17A>G
ENST00000688912.1:n.1837-17A>G
ENST00000689348.1:c.1826-17A>G	ENSP00000509554.1:n.1826-17A>G
ENST00000689633.1:c.1826-17A>G	ENSP00000509054.1:n.1826-17A>G
ENST00000689736.1:c.671-17A>G	ENSP00000509722.1:n.671-17A>G
ENST00000690159.1:c.*2105-17A>G	ENSP00000510482.1:n.*2105-17A>G
ENST00000690708.1:c.671-17A>G	ENSP00000510400.1:n.671-17A>G
ENST00000690826.1:c.1826-17A>G	ENSP00000510536.1:n.1826-17A>G
ENST00000691435.1:c.1826-17A>G	ENSP00000510652.1:n.1826-17A>G
ENST00000691655.1:c.*681-17A>G	ENSP00000509652.1:n.*681-17A>G
ENST00000692534.1:c.204-17A>G
ENST00000692836.1:c.1826-17A>G	ENSP00000509971.1:n.1826-17A>G
ENST00000692938.1:c.1826-17A>G	ENSP00000509072.1:n.1826-17A>G
ENST00000693231.1:c.*1566-17A>G	ENSP00000510764.1:n.*1566-17A>G
ENST00000693528.1:n.59-17A>G
ENST00000344683.10:c.1826-17A>G MANE Select	ENSP00000342924.5:n.1826-17A>G
ENST00000344683.9:c.1826-17A>G	ENSP00000342924.5:n.1826-17A>G
NM_024596.3:c.1826-17A>G	NP_078872.2:n.1826-17A>G
XM_011534755.1:c.1826-17A>G	XP_011533057.1:n.1826-17A>G
XM_011534756.1:c.1826-17A>G	XP_011533058.1:n.1826-17A>G
XM_011534757.1:c.1826-17A>G	XP_011533059.1:n.1826-17A>G
XM_011534758.1:c.1826-17A>G	XP_011533060.1:n.1826-17A>G
XM_011534759.1:c.1826-17A>G	XP_011533061.1:n.1826-17A>G
XM_011534760.1:c.1301-17A>G	XP_011533062.1:n.1301-17A>G
NM_001322042.1:c.1826-17A>G	NP_001308971.1:n.1826-17A>G
NM_001363979.1:c.1826-17A>G	NP_001350908.1:n.1826-17A>G
NM_001363980.1:c.1826-17A>G	NP_001350909.1:n.1826-17A>G
NM_024596.4:c.1826-17A>G	NP_078872.2:n.1826-17A>G
XM_011534755.3:c.1826-17A>G	XP_011533057.1:n.1826-17A>G
XM_011534756.3:c.1826-17A>G	XP_011533058.1:n.1826-17A>G
XM_011534757.3:c.1826-17A>G	XP_011533059.1:n.1826-17A>G
XM_011534758.3:c.1826-17A>G	XP_011533060.1:n.1826-17A>G
XM_011534759.3:c.1826-17A>G	XP_011533061.1:n.1826-17A>G
XM_011534760.2:c.1301-17A>G	XP_011533062.1:n.1301-17A>G
XM_017013829.2:c.1826-17A>G	XP_016869318.1:n.1826-17A>G
XM_017013831.2:c.1826-17A>G	XP_016869320.1:n.1826-17A>G
XM_017013832.2:c.1826-17A>G	XP_016869321.1:n.1826-17A>G
XM_017013833.2:c.1826-17A>G	XP_016869322.1:n.1826-17A>G
XR_001745596.2:n.1879-17A>G
NM_024596.5:c.1826-17A>G MANE Select	NP_078872.3:n.1826-17A>G
NM_001322042.2:c.1826-17A>G	NP_001308971.2:n.1826-17A>G
NM_001363980.2:c.1826-17A>G	NP_001350909.1:n.1826-17A>G