Canonical Allele Identifier: CA437092804
Gene: MCCC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.183039089G>T , CM000665.2:g.183039089G>T GRCh38
NC_000003.11:g.182756877G>T , CM000665.1:g.182756877G>T GRCh37
NC_000003.10:g.184239571G>T NCBI36
NG_008100.1:g.65489C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265594.9:c.1314C>A MANE Select ENSP00000265594.4:p.Val438=
ENST00000265594.8:c.1314C>A ENSP00000265594.4:p.Val438=
ENST00000476176.5:c.1173C>A ENSP00000420433.1:p.Val391=
ENST00000492597.5:c.987C>A ENSP00000419898.1:p.Val329=
ENST00000495767.5:c.*895C>A ENSP00000419658.1:n.*895C>A
ENST00000497830.5:c.*911C>A ENSP00000420088.1:n.*911C>A
ENST00000497959.5:c.1200C>A ENSP00000420648.1:p.Val400=
ENST00000539926.5:c.864C>A ENSP00000441253.2:p.Val288=
ENST00000610757.4:c.864C>A ENSP00000480435.1:p.Val288=
ENST00000629669.2:c.1200C>A ENSP00000486824.1:p.Val400=
NM_001293273.1:c.963C>A NP_001280202.1:p.Val321=
NM_020166.4:c.1314C>A NP_064551.3:p.Val438=
NR_120639.1:n.1228C>A
NR_120640.1:n.1981C>A
XM_006713702.1:c.987C>A XP_006713765.1:p.Val329=
XM_011512992.1:c.1200C>A XP_011511294.1:p.Val400=
XM_011512993.1:c.1314C>A XP_011511295.1:p.Val438=
XR_241502.2:n.1461C>A
XR_924159.1:n.1461C>A
NM_001363880.1:c.987C>A NP_001350809.1:p.Val329=
XM_011512992.2:c.1200C>A XP_011511294.1:p.Val400=
XR_001740207.2:n.1437C>A
XR_001740208.2:n.1437C>A
XR_001740209.2:n.1407C>A
XR_001740210.1:n.1267C>A
XR_002959553.1:n.1437C>A
XR_002959554.1:n.1437C>A
XR_241502.3:n.1407C>A
NM_020166.5:c.1314C>A MANE Select NP_064551.3:p.Val438=
NM_001293273.2:c.963C>A NP_001280202.1:p.Val321=
NR_120639.2:n.1137C>A
NR_120640.2:n.1981C>A