Canonical Allele Identifier: CA1761019777
Gene: MCPH1 HGNC NCBI
MCPH1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.6630984T>G , CM000670.2:g.6630984T>G GRCh38
NC_000008.10:g.6488505T>G , CM000670.1:g.6488505T>G GRCh37
NC_000008.9:g.6475913T>G NCBI36
NG_016619.1:g.229393T>G
NG_016619.2:g.229393T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000519221.6:n.820+5947T>G (MCPH1)
ENST00000521175.2:n.1175+9293T>G (MCPH1)
ENST00000687324.1:n.1390+9293T>G (MCPH1)
ENST00000687720.1:c.*2400+9293T>G (MCPH1) ENSP00000510728.1:n.*2400+9293T>G
ENST00000688101.1:c.2609+9293T>G (MCPH1)
ENST00000688388.1:c.*441+9293T>G (MCPH1) ENSP00000510092.1:n.*441+9293T>G
ENST00000689148.1:n.1412+9293T>G (MCPH1)
ENST00000689348.1:c.2594+5947T>G (MCPH1) ENSP00000509554.1:n.2594+5947T>G
ENST00000689633.1:c.2173+9293T>G (MCPH1) ENSP00000509054.1:n.2173+9293T>G
ENST00000690708.1:c.1297+9293T>G (MCPH1) ENSP00000510400.1:n.1297+9293T>G
ENST00000690826.1:c.2453-6917T>G (MCPH1) ENSP00000510536.1:n.2453-6917T>G
ENST00000693231.1:c.*1676-11696T>G (MCPH1) ENSP00000510764.1:n.*1676-11696T>G
ENST00000344683.10:c.2452+9293T>G (MCPH1) MANE Select ENSP00000342924.5:n.2452+9293T>G
ENST00000344683.9:c.2452+9293T>G (MCPH1) ENSP00000342924.5:n.2452+9293T>G
ENST00000521175.1:n.240+9293T>G (MCPH1)
NM_024596.3:c.2452+9293T>G (MCPH1) NP_078872.2:n.2452+9293T>G
NR_125386.1:n.70-3674A>C (MCPH1-AS1)
NM_001322042.1:c.2594+5947T>G (MCPH1) NP_001308971.1:n.2594+5947T>G
NM_001363979.1:c.2453-6917T>G (MCPH1) NP_001350908.1:n.2453-6917T>G
NM_001363980.1:c.2173+9293T>G (MCPH1) NP_001350909.1:n.2173+9293T>G
NM_024596.4:c.2452+9293T>G (MCPH1) NP_078872.2:n.2452+9293T>G
XM_017013833.2:c.2215-12010T>G (MCPH1) XP_016869322.1:n.2215-12010T>G
XR_001745596.2:n.2505+9293T>G (MCPH1)
NM_024596.5:c.2452+9293T>G (MCPH1) MANE Select NP_078872.3:n.2452+9293T>G
NM_001322042.2:c.2594+5947T>G (MCPH1) NP_001308971.2:n.2594+5947T>G
NM_001363980.2:c.2173+9293T>G (MCPH1) NP_001350909.1:n.2173+9293T>G