Canonical Allele Identifier: CA4610542
Gene: MCPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 363525
dbSNP Id: rs548329168

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6445125C>A , CM000670.2:g.6445125C>A GRCh38
NC_000008.10:g.6302646C>A , CM000670.1:g.6302646C>A GRCh37
NC_000008.9:g.6290054C>A NCBI36
NG_016619.1:g.43534C>A
NG_016619.2:g.43534C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000344683.10:c.1403C>A MANE Select ENSP00000342924.5:p.Thr468Asn
ENST00000344683.9:c.1403C>A ENSP00000342924.5:p.Thr468Asn
ENST00000519480.5:c.1403C>A ENSP00000430962.1:p.Thr468Asn
ENST00000522905.1:c.1259C>A ENSP00000430768.1:p.Thr420Asn
NM_001172574.1:c.1403C>A NP_001166045.1:p.Thr468Asn
NM_001172575.1:c.1259C>A NP_001166046.1:p.Thr420Asn
NM_024596.3:c.1403C>A NP_078872.2:p.Thr468Asn
XM_011534755.1:c.1403C>A XP_011533057.1:p.Thr468Asn
XM_011534756.1:c.1403C>A XP_011533058.1:p.Thr468Asn
XM_011534757.1:c.1403C>A XP_011533059.1:p.Thr468Asn
XM_011534758.1:c.1403C>A XP_011533060.1:p.Thr468Asn
XM_011534759.1:c.1403C>A XP_011533061.1:p.Thr468Asn
XM_011534760.1:c.878C>A XP_011533062.1:p.Thr293Asn
NM_001322042.1:c.1403C>A NP_001308971.1:p.Thr468Asn
NM_001322043.1:c.1397C>A NP_001308972.1:p.Thr466Asn
NM_001322045.1:c.1301C>A NP_001308974.1:p.Thr434Asn
NM_001363979.1:c.1403C>A NP_001350908.1:p.Thr468Asn
NM_001363980.1:c.1403C>A NP_001350909.1:p.Thr468Asn
NM_024596.4:c.1403C>A NP_078872.2:p.Thr468Asn
NR_136159.1:n.1364C>A
XM_011534755.3:c.1403C>A XP_011533057.1:p.Thr468Asn
XM_011534756.3:c.1403C>A XP_011533058.1:p.Thr468Asn
XM_011534757.3:c.1403C>A XP_011533059.1:p.Thr468Asn
XM_011534758.3:c.1403C>A XP_011533060.1:p.Thr468Asn
XM_011534759.3:c.1403C>A XP_011533061.1:p.Thr468Asn
XM_011534760.2:c.878C>A XP_011533062.1:p.Thr293Asn
XM_017013829.2:c.1403C>A XP_016869318.1:p.Thr468Asn
XM_017013831.2:c.1403C>A XP_016869320.1:p.Thr468Asn
XM_017013832.2:c.1403C>A XP_016869321.1:p.Thr468Asn
XM_017013833.2:c.1403C>A XP_016869322.1:p.Thr468Asn
XR_001745596.2:n.1456C>A
NM_024596.5:c.1403C>A MANE Select NP_078872.3:p.Thr468Asn
NM_001322042.2:c.1403C>A NP_001308971.2:p.Thr468Asn
NM_001363980.2:c.1403C>A NP_001350909.1:p.Thr468Asn
NM_001172574.2:c.1403C>A NP_001166045.2:p.Thr468Asn
NM_001172575.2:c.1259C>A NP_001166046.1:p.Thr420Asn
NM_001322043.2:c.1397C>A NP_001308972.2:p.Thr466Asn
NM_001322045.2:c.1301C>A NP_001308974.2:p.Thr434Asn
NR_136159.2:n.1329C>A