Canonical Allele Identifier: CA1425382283
Gene: MCCC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.183037411A= , CM000665.2:g.183037411A= GRCh38
NC_000003.11:g.182755199A= , CM000665.1:g.182755199A= GRCh37
NC_000003.10:g.184237893A= NCBI36
NG_008100.1:g.67167T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265594.9:c.1401T= MANE Select ENSP00000265594.4:p.Ile467=
ENST00000265594.8:c.1401T= ENSP00000265594.4:p.Ile467=
ENST00000476176.5:c.1260T= ENSP00000420433.1:p.Ile420=
ENST00000492597.5:c.1074T= ENSP00000419898.1:p.Ile358=
ENST00000495767.5:c.*982T= ENSP00000419658.1:n.*982T=
ENST00000497830.5:c.*998T= ENSP00000420088.1:n.*998T=
ENST00000497959.5:c.1263+1615T= ENSP00000420648.1:n.1263+1615T=
ENST00000539926.5:c.951T= ENSP00000441253.2:p.Ile317=
ENST00000610757.4:c.951T= ENSP00000480435.1:p.Ile317=
ENST00000629669.2:c.1263+1615T= ENSP00000486824.1:n.1263+1615T=
NM_001293273.1:c.1050T= NP_001280202.1:p.Ile350=
NM_020166.4:c.1401T= NP_064551.3:p.Ile467=
NR_120639.1:n.1315T=
NR_120640.1:n.2044+1615T=
XM_006713702.1:c.1074T= XP_006713765.1:p.Ile358=
XM_011512992.1:c.1287T= XP_011511294.1:p.Ile429=
XM_011512993.1:c.1377+1615T= XP_011511295.1:n.1377+1615T=
XR_241502.2:n.1524+1615T=
XR_924159.1:n.1548T=
NM_001363880.1:c.1074T= NP_001350809.1:p.Ile358=
XM_011512992.2:c.1287T= XP_011511294.1:p.Ile429=
XR_001740207.2:n.1524T=
XR_001740208.2:n.1524T=
XR_001740209.2:n.1470+1615T=
XR_001740210.1:n.1354T=
XR_002959553.1:n.1524T=
XR_002959554.1:n.1500+1615T=
XR_241502.3:n.1470+1615T=
NM_020166.5:c.1401T= MANE Select NP_064551.3:p.Ile467=
NM_001293273.2:c.1050T= NP_001280202.1:p.Ile350=
NR_120639.2:n.1224T=
NR_120640.2:n.2044+1615T=