Canonical Allele Identifier: CA1425382969
Gene: MCCC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.183039086C= , CM000665.2:g.183039086C= GRCh38
NC_000003.11:g.182756874C= , CM000665.1:g.182756874C= GRCh37
NC_000003.10:g.184239568C= NCBI36
NG_008100.1:g.65492G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265594.9:c.1317G= MANE Select ENSP00000265594.4:p.Val439=
ENST00000265594.8:c.1317G= ENSP00000265594.4:p.Val439=
ENST00000476176.5:c.1176G= ENSP00000420433.1:p.Val392=
ENST00000492597.5:c.990G= ENSP00000419898.1:p.Val330=
ENST00000495767.5:c.*898G= ENSP00000419658.1:n.*898G=
ENST00000497830.5:c.*914G= ENSP00000420088.1:n.*914G=
ENST00000497959.5:c.1203G= ENSP00000420648.1:p.Val401=
ENST00000539926.5:c.867G= ENSP00000441253.2:p.Val289=
ENST00000610757.4:c.867G= ENSP00000480435.1:p.Val289=
ENST00000629669.2:c.1203G= ENSP00000486824.1:p.Val401=
NM_001293273.1:c.966G= NP_001280202.1:p.Val322=
NM_020166.4:c.1317G= NP_064551.3:p.Val439=
NR_120639.1:n.1231G=
NR_120640.1:n.1984G=
XM_006713702.1:c.990G= XP_006713765.1:p.Val330=
XM_011512992.1:c.1203G= XP_011511294.1:p.Val401=
XM_011512993.1:c.1317G= XP_011511295.1:p.Val439=
XR_241502.2:n.1464G=
XR_924159.1:n.1464G=
NM_001363880.1:c.990G= NP_001350809.1:p.Val330=
XM_011512992.2:c.1203G= XP_011511294.1:p.Val401=
XR_001740207.2:n.1440G=
XR_001740208.2:n.1440G=
XR_001740209.2:n.1410G=
XR_001740210.1:n.1270G=
XR_002959553.1:n.1440G=
XR_002959554.1:n.1440G=
XR_241502.3:n.1410G=
NM_020166.5:c.1317G= MANE Select NP_064551.3:p.Val439=
NM_001293273.2:c.966G= NP_001280202.1:p.Val322=
NR_120639.2:n.1140G=
NR_120640.2:n.1984G=