Canonical Allele Identifier: CA2577969807
Gene: MCCC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.183037192A>T , CM000665.2:g.183037192A>T GRCh38
NC_000003.11:g.182754980A>T , CM000665.1:g.182754980A>T GRCh37
NC_000003.10:g.184237674A>T NCBI36
NG_008100.1:g.67386T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265594.9:c.1594+26T>A MANE Select ENSP00000265594.4:n.1594+26T>A
ENST00000265594.8:c.1594+26T>A ENSP00000265594.4:n.1594+26T>A
ENST00000476176.5:c.1453+26T>A ENSP00000420433.1:n.1453+26T>A
ENST00000489909.1:n.138+26T>A
ENST00000492597.5:c.1267+26T>A ENSP00000419898.1:n.1267+26T>A
ENST00000495767.5:c.*1175+26T>A ENSP00000419658.1:n.*1175+26T>A
ENST00000497830.5:c.*1191+26T>A ENSP00000420088.1:n.*1191+26T>A
ENST00000497959.5:c.1263+1834T>A ENSP00000420648.1:n.1263+1834T>A
ENST00000539926.5:c.1144+26T>A ENSP00000441253.2:n.1144+26T>A
ENST00000610757.4:c.1144+26T>A ENSP00000480435.1:n.1144+26T>A
ENST00000629669.2:c.1263+1834T>A ENSP00000486824.1:n.1263+1834T>A
NM_001293273.1:c.1243+26T>A NP_001280202.1:n.1243+26T>A
NM_020166.4:c.1594+26T>A NP_064551.3:n.1594+26T>A
NR_120639.1:n.1508+26T>A
NR_120640.1:n.2044+1834T>A
XM_006713702.1:c.1267+26T>A XP_006713765.1:n.1267+26T>A
XM_011512992.1:c.1480+26T>A XP_011511294.1:n.1480+26T>A
XM_011512993.1:c.1377+1834T>A XP_011511295.1:n.1377+1834T>A
XR_241502.2:n.1524+1834T>A
XR_924159.1:n.1741+26T>A
NM_001363880.1:c.1267+26T>A NP_001350809.1:n.1267+26T>A
XM_011512992.2:c.1480+26T>A XP_011511294.1:n.1480+26T>A
XR_001740207.2:n.1717+26T>A
XR_001740208.2:n.1717+26T>A
XR_001740209.2:n.1470+1834T>A
XR_001740210.1:n.1547+26T>A
XR_002959553.1:n.1717+26T>A
XR_002959554.1:n.1500+1834T>A
XR_241502.3:n.1470+1834T>A
NM_020166.5:c.1594+26T>A MANE Select NP_064551.3:n.1594+26T>A
NM_001293273.2:c.1243+26T>A NP_001280202.1:n.1243+26T>A
NR_120639.2:n.1417+26T>A
NR_120640.2:n.2044+1834T>A