Canonical Allele Identifier: CA370221595

Gene: MCPH1

Linked Data

• ClinVar Variation Id: 1421730
• ClinVar RCV Id: RCV001917073
• dbSNP Id: rs1245850569
• gnomAD v3: 8-6445139-A-C
• gnomAD v4: 8-6445139-A-C
• COSMIC: COSM1728728
• MyVariant Identifiers: chr8:g.6302660A>C (hg19) ; chr8:g.6445139A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6445139A>C , CM000670.2:g.6445139A>C	GRCh38
NC_000008.10:g.6302660A>C , CM000670.1:g.6302660A>C	GRCh37
NC_000008.9:g.6290068A>C	NCBI36
NG_016619.1:g.43548A>C
NG_016619.2:g.43548A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519480.6:c.1417A>C	ENSP00000430962.1:p.Ile473Leu
ENST00000685179.1:c.1411A>C	ENSP00000510001.1:p.Ile471Leu
ENST00000686750.1:c.1327A>C	ENSP00000509053.1:p.Ile443Leu
ENST00000687577.1:n.2978A>C
ENST00000687720.1:c.*1365A>C	ENSP00000510728.1:n.*1365A>C
ENST00000687874.1:n.685+2983A>C
ENST00000688099.1:c.*1696A>C	ENSP00000509622.1:n.*1696A>C
ENST00000688101.1:c.837A>C
ENST00000688388.1:c.1417A>C	ENSP00000510092.1:p.Ile473Leu
ENST00000688452.1:c.*936A>C	ENSP00000510556.1:n.*936A>C
ENST00000688658.1:n.257A>C
ENST00000688912.1:n.1428A>C
ENST00000689348.1:c.1417A>C	ENSP00000509554.1:p.Ile473Leu
ENST00000689633.1:c.1417A>C	ENSP00000509054.1:p.Ile473Leu
ENST00000689736.1:c.670+2983A>C	ENSP00000509722.1:n.670+2983A>C
ENST00000690159.1:c.*1696A>C	ENSP00000510482.1:n.*1696A>C
ENST00000690518.1:c.*1157A>C	ENSP00000509135.1:n.*1157A>C
ENST00000690682.1:c.*1312A>C	ENSP00000509896.1:n.*1312A>C
ENST00000690708.1:c.670+2983A>C	ENSP00000510400.1:n.670+2983A>C
ENST00000690826.1:c.1417A>C	ENSP00000510536.1:p.Ile473Leu
ENST00000691435.1:c.1417A>C	ENSP00000510652.1:p.Ile473Leu
ENST00000691655.1:c.*680+2983A>C	ENSP00000509652.1:n.*680+2983A>C
ENST00000691738.1:n.1625A>C
ENST00000692534.1:c.203+634A>C
ENST00000692836.1:c.1417A>C	ENSP00000509971.1:p.Ile473Leu
ENST00000692938.1:c.1417A>C	ENSP00000509072.1:p.Ile473Leu
ENST00000693231.1:c.*1157A>C	ENSP00000510764.1:n.*1157A>C
ENST00000344683.10:c.1417A>C MANE Select	ENSP00000342924.5:p.Ile473Leu
ENST00000344683.9:c.1417A>C	ENSP00000342924.5:p.Ile473Leu
ENST00000519480.5:c.1417A>C	ENSP00000430962.1:p.Ile473Leu
ENST00000522905.1:c.1273A>C	ENSP00000430768.1:p.Ile425Leu
NM_001172574.1:c.1417A>C	NP_001166045.1:p.Ile473Leu
NM_001172575.1:c.1273A>C	NP_001166046.1:p.Ile425Leu
NM_024596.3:c.1417A>C	NP_078872.2:p.Ile473Leu
XM_011534755.1:c.1417A>C	XP_011533057.1:p.Ile473Leu
XM_011534756.1:c.1417A>C	XP_011533058.1:p.Ile473Leu
XM_011534757.1:c.1417A>C	XP_011533059.1:p.Ile473Leu
XM_011534758.1:c.1417A>C	XP_011533060.1:p.Ile473Leu
XM_011534759.1:c.1417A>C	XP_011533061.1:p.Ile473Leu
XM_011534760.1:c.892A>C	XP_011533062.1:p.Ile298Leu
NM_001322042.1:c.1417A>C	NP_001308971.1:p.Ile473Leu
NM_001322043.1:c.1411A>C	NP_001308972.1:p.Ile471Leu
NM_001322045.1:c.1315A>C	NP_001308974.1:p.Ile439Leu
NM_001363979.1:c.1417A>C	NP_001350908.1:p.Ile473Leu
NM_001363980.1:c.1417A>C	NP_001350909.1:p.Ile473Leu
NM_024596.4:c.1417A>C	NP_078872.2:p.Ile473Leu
NR_136159.1:n.1378A>C
XM_011534755.3:c.1417A>C	XP_011533057.1:p.Ile473Leu
XM_011534756.3:c.1417A>C	XP_011533058.1:p.Ile473Leu
XM_011534757.3:c.1417A>C	XP_011533059.1:p.Ile473Leu
XM_011534758.3:c.1417A>C	XP_011533060.1:p.Ile473Leu
XM_011534759.3:c.1417A>C	XP_011533061.1:p.Ile473Leu
XM_011534760.2:c.892A>C	XP_011533062.1:p.Ile298Leu
XM_017013829.2:c.1417A>C	XP_016869318.1:p.Ile473Leu
XM_017013831.2:c.1417A>C	XP_016869320.1:p.Ile473Leu
XM_017013832.2:c.1417A>C	XP_016869321.1:p.Ile473Leu
XM_017013833.2:c.1417A>C	XP_016869322.1:p.Ile473Leu
XR_001745596.2:n.1470A>C
NM_024596.5:c.1417A>C MANE Select	NP_078872.3:p.Ile473Leu
NM_001322042.2:c.1417A>C	NP_001308971.2:p.Ile473Leu
NM_001363980.2:c.1417A>C	NP_001350909.1:p.Ile473Leu
NM_001172574.2:c.1417A>C	NP_001166045.2:p.Ile473Leu
NM_001172575.2:c.1273A>C	NP_001166046.1:p.Ile425Leu
NM_001322043.2:c.1411A>C	NP_001308972.2:p.Ile471Leu
NM_001322045.2:c.1315A>C	NP_001308974.2:p.Ile439Leu
NR_136159.2:n.1343A>C