Canonical Allele Identifier: CA1425382188
Gene: MCCC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.183037215T= , CM000665.2:g.183037215T= GRCh38
NC_000003.11:g.182755003T= , CM000665.1:g.182755003T= GRCh37
NC_000003.10:g.184237697T= NCBI36
NG_008100.1:g.67363A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265594.9:c.1594+3A= MANE Select ENSP00000265594.4:n.1594+3A=
ENST00000265594.8:c.1594+3A= ENSP00000265594.4:n.1594+3A=
ENST00000476176.5:c.1453+3A= ENSP00000420433.1:n.1453+3A=
ENST00000489909.1:n.138+3A=
ENST00000492597.5:c.1267+3A= ENSP00000419898.1:n.1267+3A=
ENST00000495767.5:c.*1175+3A= ENSP00000419658.1:n.*1175+3A=
ENST00000497830.5:c.*1191+3A= ENSP00000420088.1:n.*1191+3A=
ENST00000497959.5:c.1263+1811A= ENSP00000420648.1:n.1263+1811A=
ENST00000539926.5:c.1144+3A= ENSP00000441253.2:n.1144+3A=
ENST00000610757.4:c.1144+3A= ENSP00000480435.1:n.1144+3A=
ENST00000629669.2:c.1263+1811A= ENSP00000486824.1:n.1263+1811A=
NM_001293273.1:c.1243+3A= NP_001280202.1:n.1243+3A=
NM_020166.4:c.1594+3A= NP_064551.3:n.1594+3A=
NR_120639.1:n.1508+3A=
NR_120640.1:n.2044+1811A=
XM_006713702.1:c.1267+3A= XP_006713765.1:n.1267+3A=
XM_011512992.1:c.1480+3A= XP_011511294.1:n.1480+3A=
XM_011512993.1:c.1377+1811A= XP_011511295.1:n.1377+1811A=
XR_241502.2:n.1524+1811A=
XR_924159.1:n.1741+3A=
NM_001363880.1:c.1267+3A= NP_001350809.1:n.1267+3A=
XM_011512992.2:c.1480+3A= XP_011511294.1:n.1480+3A=
XR_001740207.2:n.1717+3A=
XR_001740208.2:n.1717+3A=
XR_001740209.2:n.1470+1811A=
XR_001740210.1:n.1547+3A=
XR_002959553.1:n.1717+3A=
XR_002959554.1:n.1500+1811A=
XR_241502.3:n.1470+1811A=
NM_020166.5:c.1594+3A= MANE Select NP_064551.3:n.1594+3A=
NM_001293273.2:c.1243+3A= NP_001280202.1:n.1243+3A=
NR_120639.2:n.1417+3A=
NR_120640.2:n.2044+1811A=