Canonical Allele Identifier: CA172535
Gene: MCPH1 HGNC NCBI
MCPH1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 21703
dbSNP Id: rs1057091
gnomAD v2: 8-6500544-C-T
gnomAD v3: 8-6643023-C-T
gnomAD v4: 8-6643023-C-T

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000519221.6:n.850C>T (MCPH1)
ENST00000521175.2:n.1365C>T (MCPH1)
ENST00000687324.1:n.1580C>T (MCPH1)
ENST00000687720.1:c.*2430C>T (MCPH1) ENSP00000510728.1:n.*2430C>T
ENST00000688101.1:c.2639C>T (MCPH1)
ENST00000688388.1:c.*471C>T (MCPH1) ENSP00000510092.1:n.*471C>T
ENST00000689148.1:n.1442C>T (MCPH1)
ENST00000689348.1:c.2624C>T (MCPH1) ENSP00000509554.1:p.Pro875Leu
ENST00000689633.1:c.2203C>T (MCPH1) ENSP00000509054.1:p.Pro735Ser
ENST00000690708.1:c.1327C>T (MCPH1) ENSP00000510400.1:p.Pro443Ser
ENST00000693231.1:c.*1865C>T (MCPH1) ENSP00000510764.1:n.*1865C>T
ENST00000344683.10:c.2482C>T (MCPH1) MANE Select ENSP00000342924.5:p.Pro828Ser
ENST00000344683.9:c.2482C>T (MCPH1) ENSP00000342924.5:p.Pro828Ser
ENST00000521175.1:n.430C>T (MCPH1)
NM_024596.3:c.2482C>T (MCPH1) NP_078872.2:p.Pro828Ser
NR_125386.1:n.70-15713G>A (MCPH1-AS1)
NM_001322042.1:c.2624C>T (MCPH1) NP_001308971.1:p.Pro875Leu
NM_001363980.1:c.2203C>T (MCPH1) NP_001350909.1:p.Pro735Ser
NM_024596.4:c.2482C>T (MCPH1) NP_078872.2:p.Pro828Ser
XM_017013833.2:c.2244C>T (MCPH1) XP_016869322.1:p.Pro748=
XR_001745596.2:n.2695C>T (MCPH1)
NM_024596.5:c.2482C>T (MCPH1) MANE Select NP_078872.3:p.Pro828Ser
NM_001322042.2:c.2624C>T (MCPH1) NP_001308971.2:p.Pro875Leu
NM_001363980.2:c.2203C>T (MCPH1) NP_001350909.1:p.Pro735Ser