Canonical Allele Identifier: CA1425382981
Gene: MCCC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.183039121C= , CM000665.2:g.183039121C= GRCh38
NC_000003.11:g.182756909C= , CM000665.1:g.182756909C= GRCh37
NC_000003.10:g.184239603C= NCBI36
NG_008100.1:g.65457G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265594.9:c.1282G= MANE Select ENSP00000265594.4:p.Val428=
ENST00000265594.8:c.1282G= ENSP00000265594.4:p.Val428=
ENST00000476176.5:c.1141G= ENSP00000420433.1:p.Val381=
ENST00000492597.5:c.955G= ENSP00000419898.1:p.Val319=
ENST00000495767.5:c.*863G= ENSP00000419658.1:n.*863G=
ENST00000497830.5:c.*879G= ENSP00000420088.1:n.*879G=
ENST00000497959.5:c.1168G= ENSP00000420648.1:p.Val390=
ENST00000539926.5:c.832G= ENSP00000441253.2:p.Val278=
ENST00000610757.4:c.832G= ENSP00000480435.1:p.Val278=
ENST00000629669.2:c.1168G= ENSP00000486824.1:p.Val390=
NM_001293273.1:c.931G= NP_001280202.1:p.Val311=
NM_020166.4:c.1282G= NP_064551.3:p.Val428=
NR_120639.1:n.1196G=
NR_120640.1:n.1949G=
XM_006713702.1:c.955G= XP_006713765.1:p.Val319=
XM_011512992.1:c.1168G= XP_011511294.1:p.Val390=
XM_011512993.1:c.1282G= XP_011511295.1:p.Val428=
XR_241502.2:n.1429G=
XR_924159.1:n.1429G=
NM_001363880.1:c.955G= NP_001350809.1:p.Val319=
XM_011512992.2:c.1168G= XP_011511294.1:p.Val390=
XR_001740207.2:n.1405G=
XR_001740208.2:n.1405G=
XR_001740209.2:n.1375G=
XR_001740210.1:n.1235G=
XR_002959553.1:n.1405G=
XR_002959554.1:n.1405G=
XR_241502.3:n.1375G=
NM_020166.5:c.1282G= MANE Select NP_064551.3:p.Val428=
NM_001293273.2:c.931G= NP_001280202.1:p.Val311=
NR_120639.2:n.1105G=
NR_120640.2:n.1949G=