Canonical Allele Identifier: CA172521

Gene: MCPH1 MCPH1-AS1

Linked Data

• ClinVar Variation Id: 21702
• ClinVar RCV Id: RCV000020900 ; RCV000146305
• dbSNP Id: rs1057090
• ExAC: 8:6479042 C / T
• gnomAD v2: 8-6479042-C-T
• gnomAD v3: 8-6621521-C-T
• gnomAD v4: 8-6621521-C-T
• MyVariant Identifiers: chr8:g.6479042C>T (hg19) ; chr8:g.6621521C>T (hg38)
• PubMed: PMID:18204051 ; PMID:20301772

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6621521C>T , CM000670.2:g.6621521C>T	GRCh38
NC_000008.10:g.6479042C>T , CM000670.1:g.6479042C>T	GRCh37
NC_000008.9:g.6466450C>T	NCBI36
NG_016619.1:g.219930C>T
NG_016619.2:g.219930C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000519221.6:n.508C>T (MCPH1)
ENST00000521129.2:c.329C>T (MCPH1)	ENSP00000509664.1:p.Ala110Val
ENST00000521175.2:n.1005C>T (MCPH1)
ENST00000687324.1:n.1220C>T (MCPH1)
ENST00000687413.1:c.371C>T (MCPH1)	ENSP00000510583.1:p.Ala124Val
ENST00000687720.1:c.*2230C>T (MCPH1)	ENSP00000510728.1:n.*2230C>T
ENST00000688101.1:c.2439C>T (MCPH1)
ENST00000688388.1:c.*271C>T (MCPH1)	ENSP00000510092.1:n.*271C>T
ENST00000689148.1:n.1242C>T (MCPH1)
ENST00000689348.1:c.2282C>T (MCPH1)	ENSP00000509554.1:p.Ala761Val
ENST00000689633.1:c.2003C>T (MCPH1)	ENSP00000509054.1:p.Ala668Val
ENST00000689736.1:c.926C>T (MCPH1)	ENSP00000509722.1:p.Ala309Val
ENST00000690159.1:c.*2561C>T (MCPH1)	ENSP00000510482.1:n.*2561C>T
ENST00000690708.1:c.1127C>T (MCPH1)	ENSP00000510400.1:p.Ala376Val
ENST00000690826.1:c.2282C>T (MCPH1)	ENSP00000510536.1:p.Ala761Val
ENST00000692836.1:c.2282C>T (MCPH1)	ENSP00000509971.1:p.Ala761Val
ENST00000692938.1:c.2282C>T (MCPH1)	ENSP00000509072.1:p.Ala761Val
ENST00000693231.1:c.*1676-21159C>T (MCPH1)	ENSP00000510764.1:n.*1676-21159C>T
ENST00000344683.10:c.2282C>T (MCPH1) MANE Select	ENSP00000342924.5:p.Ala761Val
ENST00000344683.9:c.2282C>T (MCPH1)	ENSP00000342924.5:p.Ala761Val
ENST00000519221.5:n.389C>T (MCPH1)
ENST00000521129.1:n.440C>T (MCPH1)
ENST00000521175.1:n.70C>T (MCPH1)
NM_024596.3:c.2282C>T (MCPH1)	NP_078872.2:p.Ala761Val
NR_125386.1:n.344G>A (MCPH1-AS1)
XM_011534755.1:c.2282C>T (MCPH1)	XP_011533057.1:p.Ala761Val
XM_011534760.1:c.1757C>T (MCPH1)	XP_011533062.1:p.Ala586Val
NM_001322042.1:c.2282C>T (MCPH1)	NP_001308971.1:p.Ala761Val
NM_001363979.1:c.2282C>T (MCPH1)	NP_001350908.1:p.Ala761Val
NM_001363980.1:c.2003C>T (MCPH1)	NP_001350909.1:p.Ala668Val
NM_024596.4:c.2282C>T (MCPH1)	NP_078872.2:p.Ala761Val
XM_011534755.3:c.2282C>T (MCPH1)	XP_011533057.1:p.Ala761Val
XM_011534760.2:c.1757C>T (MCPH1)	XP_011533062.1:p.Ala586Val
XM_017013829.2:c.2282C>T (MCPH1)	XP_016869318.1:p.Ala761Val
XM_017013831.2:c.2081C>T (MCPH1)	XP_016869320.1:p.Ala694Val
XM_017013832.2:c.2003C>T (MCPH1)	XP_016869321.1:p.Ala668Val
XM_017013833.2:c.2215-21473C>T (MCPH1)	XP_016869322.1:n.2215-21473C>T
XR_001745596.2:n.2335C>T (MCPH1)
NM_024596.5:c.2282C>T (MCPH1) MANE Select	NP_078872.3:p.Ala761Val
NM_001322042.2:c.2282C>T (MCPH1)	NP_001308971.2:p.Ala761Val
NM_001363980.2:c.2003C>T (MCPH1)	NP_001350909.1:p.Ala668Val