Canonical Allele Identifier: CA285753
Gene: MCCC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 95940
dbSNP Id: rs398124352
COSMIC: COSM292583

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.183039088C>T , CM000665.2:g.183039088C>T GRCh38
NC_000003.11:g.182756876C>T , CM000665.1:g.182756876C>T GRCh37
NC_000003.10:g.184239570C>T NCBI36
NG_008100.1:g.65490G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265594.9:c.1315G>A MANE Select ENSP00000265594.4:p.Val439Met
ENST00000265594.8:c.1315G>A ENSP00000265594.4:p.Val439Met
ENST00000476176.5:c.1174G>A ENSP00000420433.1:p.Val392Met
ENST00000492597.5:c.988G>A ENSP00000419898.1:p.Val330Met
ENST00000495767.5:c.*896G>A ENSP00000419658.1:p.=
ENST00000497830.5:c.*912G>A ENSP00000420088.1:p.=
ENST00000497959.5:c.1201G>A ENSP00000420648.1:p.Val401Met
ENST00000539926.5:c.865G>A ENSP00000441253.2:p.Val289Met
ENST00000610757.4:c.865G>A ENSP00000480435.1:p.Val289Met
ENST00000629669.2:c.1201G>A ENSP00000486824.1:p.Val401Met
NM_001293273.1:c.964G>A NP_001280202.1:p.Val322Met
NM_020166.4:c.1315G>A NP_064551.3:p.Val439Met
NR_120639.1:n.1229G>A
NR_120640.1:n.1982G>A
XM_006713702.1:c.988G>A XP_006713765.1:p.Val330Met
XM_011512992.1:c.1201G>A XP_011511294.1:p.Val401Met
XM_011512993.1:c.1315G>A XP_011511295.1:p.Val439Met
XR_241502.2:n.1462G>A
XR_924159.1:n.1462G>A
NM_001363880.1:c.988G>A NP_001350809.1:p.Val330Met
XM_011512992.2:c.1201G>A XP_011511294.1:p.Val401Met
XR_001740207.2:n.1438G>A
XR_001740208.2:n.1438G>A
XR_001740209.2:n.1408G>A
XR_001740210.1:n.1268G>A
XR_002959553.1:n.1438G>A
XR_002959554.1:n.1438G>A
XR_241502.3:n.1408G>A
NM_020166.5:c.1315G>A MANE Select NP_064551.3:p.Val439Met
NM_001293273.2:c.964G>A NP_001280202.1:p.Val322Met
NR_120639.2:n.1138G>A
NR_120640.2:n.1982G>A