Canonical Allele Identifier: CA1425382987
Gene: MCCC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.183039130C= , CM000665.2:g.183039130C= GRCh38
NC_000003.11:g.182756918C= , CM000665.1:g.182756918C= GRCh37
NC_000003.10:g.184239612C= NCBI36
NG_008100.1:g.65448G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265594.9:c.1273G= MANE Select ENSP00000265594.4:p.Glu425=
ENST00000265594.8:c.1273G= ENSP00000265594.4:p.Glu425=
ENST00000476176.5:c.1132G= ENSP00000420433.1:p.Glu378=
ENST00000492597.5:c.946G= ENSP00000419898.1:p.Glu316=
ENST00000495767.5:c.*854G= ENSP00000419658.1:n.*854G=
ENST00000497830.5:c.*870G= ENSP00000420088.1:n.*870G=
ENST00000497959.5:c.1159G= ENSP00000420648.1:p.Glu387=
ENST00000539926.5:c.823G= ENSP00000441253.2:p.Glu275=
ENST00000610757.4:c.823G= ENSP00000480435.1:p.Glu275=
ENST00000629669.2:c.1159G= ENSP00000486824.1:p.Glu387=
NM_001293273.1:c.922G= NP_001280202.1:p.Glu308=
NM_020166.4:c.1273G= NP_064551.3:p.Glu425=
NR_120639.1:n.1187G=
NR_120640.1:n.1940G=
XM_006713702.1:c.946G= XP_006713765.1:p.Glu316=
XM_011512992.1:c.1159G= XP_011511294.1:p.Glu387=
XM_011512993.1:c.1273G= XP_011511295.1:p.Glu425=
XR_241502.2:n.1420G=
XR_924159.1:n.1420G=
NM_001363880.1:c.946G= NP_001350809.1:p.Glu316=
XM_011512992.2:c.1159G= XP_011511294.1:p.Glu387=
XR_001740207.2:n.1396G=
XR_001740208.2:n.1396G=
XR_001740209.2:n.1366G=
XR_001740210.1:n.1226G=
XR_002959553.1:n.1396G=
XR_002959554.1:n.1396G=
XR_241502.3:n.1366G=
NM_020166.5:c.1273G= MANE Select NP_064551.3:p.Glu425=
NM_001293273.2:c.922G= NP_001280202.1:p.Glu308=
NR_120639.2:n.1096G=
NR_120640.2:n.1940G=