Canonical Allele Identifier: CA1761033233

Gene: MCPH1 MCPH1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6643023C= , CM000670.2:g.6643023C=	GRCh38
NC_000008.10:g.6500544C= , CM000670.1:g.6500544C=	GRCh37
NC_000008.9:g.6487952C=	NCBI36
NG_016619.1:g.241432C=
NG_016619.2:g.241432C=

Transcript Alleles

HGVS	Amino-acid Change
NM_024596.5:c.2482C= (MCPH1) MANE Select	NP_078872.3:p.Pro828=
ENST00000344683.10:c.2482C= (MCPH1) MANE Select	ENSP00000342924.5:p.Pro828=
NM_001322042.1:c.2624C= (MCPH1)	NP_001308971.1:p.Pro875=
NM_001322042.2:c.2624C= (MCPH1)	NP_001308971.2:p.Pro875=
NM_001363980.1:c.2203C= (MCPH1)	NP_001350909.1:p.Pro735=
NM_001363980.2:c.2203C= (MCPH1)	NP_001350909.1:p.Pro735=
NM_024596.3:c.2482C= (MCPH1)	NP_078872.2:p.Pro828=
NM_024596.4:c.2482C= (MCPH1)	NP_078872.2:p.Pro828=
NR_125386.1:n.70-15713G= (MCPH1-AS1)
ENST00000344683.9:c.2482C= (MCPH1)	ENSP00000342924.5:p.Pro828=
ENST00000519221.6:n.850C= (MCPH1)
ENST00000521175.1:n.430C= (MCPH1)
ENST00000521175.2:n.1365C= (MCPH1)
ENST00000687324.1:n.1580C= (MCPH1)
ENST00000687720.1:c.*2430C= (MCPH1)	ENSP00000510728.1:n.*2430C=
ENST00000688101.1:c.2639C= (MCPH1)
ENST00000688388.1:c.*471C= (MCPH1)	ENSP00000510092.1:n.*471C=
ENST00000689148.1:n.1442C= (MCPH1)
ENST00000689348.1:c.2624C= (MCPH1)	ENSP00000509554.1:p.Pro875=
ENST00000689633.1:c.2203C= (MCPH1)	ENSP00000509054.1:p.Pro735=
ENST00000690708.1:c.1327C= (MCPH1)	ENSP00000510400.1:p.Pro443=
ENST00000693231.1:c.*1865C= (MCPH1)	ENSP00000510764.1:n.*1865C=
XM_017013833.2:c.2244C= (MCPH1)	XP_016869322.1:p.Pro748=
XR_001745596.2:n.2695C= (MCPH1)