Canonical Allele Identifier: CA1425382284

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037412A= , CM000665.2:g.183037412A=	GRCh38
NC_000003.11:g.182755200A= , CM000665.1:g.182755200A=	GRCh37
NC_000003.10:g.184237894A=	NCBI36
NG_008100.1:g.67166T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1400T= MANE Select	ENSP00000265594.4:p.Ile467=
ENST00000265594.8:c.1400T=	ENSP00000265594.4:p.Ile467=
ENST00000476176.5:c.1259T=	ENSP00000420433.1:p.Ile420=
ENST00000492597.5:c.1073T=	ENSP00000419898.1:p.Ile358=
ENST00000495767.5:c.*981T=	ENSP00000419658.1:n.*981T=
ENST00000497830.5:c.*997T=	ENSP00000420088.1:n.*997T=
ENST00000497959.5:c.1263+1614T=	ENSP00000420648.1:n.1263+1614T=
ENST00000539926.5:c.950T=	ENSP00000441253.2:p.Ile317=
ENST00000610757.4:c.950T=	ENSP00000480435.1:p.Ile317=
ENST00000629669.2:c.1263+1614T=	ENSP00000486824.1:n.1263+1614T=
NM_001293273.1:c.1049T=	NP_001280202.1:p.Ile350=
NM_020166.4:c.1400T=	NP_064551.3:p.Ile467=
NR_120639.1:n.1314T=
NR_120640.1:n.2044+1614T=
XM_006713702.1:c.1073T=	XP_006713765.1:p.Ile358=
XM_011512992.1:c.1286T=	XP_011511294.1:p.Ile429=
XM_011512993.1:c.1377+1614T=	XP_011511295.1:n.1377+1614T=
XR_241502.2:n.1524+1614T=
XR_924159.1:n.1547T=
NM_001363880.1:c.1073T=	NP_001350809.1:p.Ile358=
XM_011512992.2:c.1286T=	XP_011511294.1:p.Ile429=
XR_001740207.2:n.1523T=
XR_001740208.2:n.1523T=
XR_001740209.2:n.1470+1614T=
XR_001740210.1:n.1353T=
XR_002959553.1:n.1523T=
XR_002959554.1:n.1500+1614T=
XR_241502.3:n.1470+1614T=
NM_020166.5:c.1400T= MANE Select	NP_064551.3:p.Ile467=
NM_001293273.2:c.1049T=	NP_001280202.1:p.Ile350=
NR_120639.2:n.1223T=
NR_120640.2:n.2044+1614T=