Canonical Allele Identifier: CA854296170

Gene: MCPH1

Linked Data

• dbSNP Id: rs1313411108
• gnomAD v3: 8-6494735-A-G
• gnomAD v4: 8-6494735-A-G
• MyVariant Identifiers: chr8:g.6352256A>G (hg19) ; chr8:g.6494735A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6494735A>G , CM000670.2:g.6494735A>G	GRCh38
NC_000008.10:g.6352256A>G , CM000670.1:g.6352256A>G	GRCh37
NC_000008.9:g.6339664A>G	NCBI36
NG_016619.1:g.93144A>G
NG_016619.2:g.93144A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519221.6:n.363-5117A>G
ENST00000521129.2:c.184-5117A>G	ENSP00000509664.1:n.184-5117A>G
ENST00000521175.2:n.860-5117A>G
ENST00000687324.1:n.1075-5117A>G
ENST00000687413.1:c.226-5117A>G	ENSP00000510583.1:n.226-5117A>G
ENST00000687720.1:c.*2085-5117A>G	ENSP00000510728.1:n.*2085-5117A>G
ENST00000688101.1:c.2294-5117A>G
ENST00000688388.1:c.*126-5117A>G	ENSP00000510092.1:n.*126-5117A>G
ENST00000688912.1:n.2148-5117A>G
ENST00000689148.1:n.1097-5117A>G
ENST00000689348.1:c.2137-5117A>G	ENSP00000509554.1:n.2137-5117A>G
ENST00000689633.1:c.1935+39483A>G	ENSP00000509054.1:n.1935+39483A>G
ENST00000689736.1:c.781-5117A>G	ENSP00000509722.1:n.781-5117A>G
ENST00000690159.1:c.*2416-5117A>G	ENSP00000510482.1:n.*2416-5117A>G
ENST00000690708.1:c.982-5117A>G	ENSP00000510400.1:n.982-5117A>G
ENST00000690826.1:c.2137-5117A>G	ENSP00000510536.1:n.2137-5117A>G
ENST00000691435.1:c.2137-5117A>G	ENSP00000510652.1:n.2137-5117A>G
ENST00000691655.1:c.*1074-5117A>G	ENSP00000509652.1:n.*1074-5117A>G
ENST00000692836.1:c.2137-5117A>G	ENSP00000509971.1:n.2137-5117A>G
ENST00000692938.1:c.2137-5117A>G	ENSP00000509072.1:n.2137-5117A>G
ENST00000693231.1:c.*1675+39483A>G	ENSP00000510764.1:n.*1675+39483A>G
ENST00000344683.10:c.2137-5117A>G MANE Select	ENSP00000342924.5:n.2137-5117A>G
ENST00000344683.9:c.2137-5117A>G	ENSP00000342924.5:n.2137-5117A>G
ENST00000519221.5:n.244-5117A>G
ENST00000521129.1:n.295-5117A>G
NM_024596.3:c.2137-5117A>G	NP_078872.2:n.2137-5117A>G
XM_011534755.1:c.2137-5117A>G	XP_011533057.1:n.2137-5117A>G
XM_011534756.1:c.2137-5117A>G	XP_011533058.1:n.2137-5117A>G
XM_011534757.1:c.2137-5117A>G	XP_011533059.1:n.2137-5117A>G
XM_011534758.1:c.2137-5117A>G	XP_011533060.1:n.2137-5117A>G
XM_011534759.1:c.2137-5117A>G	XP_011533061.1:n.2137-5117A>G
XM_011534760.1:c.1612-5117A>G	XP_011533062.1:n.1612-5117A>G
NM_001322042.1:c.2137-5117A>G	NP_001308971.1:n.2137-5117A>G
NM_001363979.1:c.2137-5117A>G	NP_001350908.1:n.2137-5117A>G
NM_001363980.1:c.1935+39483A>G	NP_001350909.1:n.1935+39483A>G
NM_024596.4:c.2137-5117A>G	NP_078872.2:n.2137-5117A>G
XM_011534755.3:c.2137-5117A>G	XP_011533057.1:n.2137-5117A>G
XM_011534756.3:c.2137-5117A>G	XP_011533058.1:n.2137-5117A>G
XM_011534757.3:c.2137-5117A>G	XP_011533059.1:n.2137-5117A>G
XM_011534758.3:c.2137-5117A>G	XP_011533060.1:n.2137-5117A>G
XM_011534759.3:c.2137-5117A>G	XP_011533061.1:n.2137-5117A>G
XM_011534760.2:c.1612-5117A>G	XP_011533062.1:n.1612-5117A>G
XM_017013829.2:c.2137-5117A>G	XP_016869318.1:n.2137-5117A>G
XM_017013831.2:c.1936-5117A>G	XP_016869320.1:n.1936-5117A>G
XM_017013832.2:c.1935+39483A>G	XP_016869321.1:n.1935+39483A>G
XM_017013833.2:c.2137-5117A>G	XP_016869322.1:n.2137-5117A>G
XR_001745596.2:n.2190-5117A>G
NM_024596.5:c.2137-5117A>G MANE Select	NP_078872.3:n.2137-5117A>G
NM_001322042.2:c.2137-5117A>G	NP_001308971.2:n.2137-5117A>G
NM_001363980.2:c.1935+39483A>G	NP_001350909.1:n.1935+39483A>G