Canonical Allele Identifier: CA1425382989
Gene: MCCC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.183039133C= , CM000665.2:g.183039133C= GRCh38
NC_000003.11:g.182756921C= , CM000665.1:g.182756921C= GRCh37
NC_000003.10:g.184239615C= NCBI36
NG_008100.1:g.65445G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265594.9:c.1270G= MANE Select ENSP00000265594.4:p.Asp424=
ENST00000265594.8:c.1270G= ENSP00000265594.4:p.Asp424=
ENST00000476176.5:c.1129G= ENSP00000420433.1:p.Asp377=
ENST00000492597.5:c.943G= ENSP00000419898.1:p.Asp315=
ENST00000495767.5:c.*851G= ENSP00000419658.1:n.*851G=
ENST00000497830.5:c.*867G= ENSP00000420088.1:n.*867G=
ENST00000497959.5:c.1156G= ENSP00000420648.1:p.Asp386=
ENST00000539926.5:c.820G= ENSP00000441253.2:p.Asp274=
ENST00000610757.4:c.820G= ENSP00000480435.1:p.Asp274=
ENST00000629669.2:c.1156G= ENSP00000486824.1:p.Asp386=
NM_001293273.1:c.919G= NP_001280202.1:p.Asp307=
NM_020166.4:c.1270G= NP_064551.3:p.Asp424=
NR_120639.1:n.1184G=
NR_120640.1:n.1937G=
XM_006713702.1:c.943G= XP_006713765.1:p.Asp315=
XM_011512992.1:c.1156G= XP_011511294.1:p.Asp386=
XM_011512993.1:c.1270G= XP_011511295.1:p.Asp424=
XR_241502.2:n.1417G=
XR_924159.1:n.1417G=
NM_001363880.1:c.943G= NP_001350809.1:p.Asp315=
XM_011512992.2:c.1156G= XP_011511294.1:p.Asp386=
XR_001740207.2:n.1393G=
XR_001740208.2:n.1393G=
XR_001740209.2:n.1363G=
XR_001740210.1:n.1223G=
XR_002959553.1:n.1393G=
XR_002959554.1:n.1393G=
XR_241502.3:n.1363G=
NM_020166.5:c.1270G= MANE Select NP_064551.3:p.Asp424=
NM_001293273.2:c.919G= NP_001280202.1:p.Asp307=
NR_120639.2:n.1093G=
NR_120640.2:n.1937G=