Canonical Allele Identifier: CA1425382954

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039052G= , CM000665.2:g.183039052G=	GRCh38
NC_000003.11:g.182756840G= , CM000665.1:g.182756840G=	GRCh37
NC_000003.10:g.184239534G=	NCBI36
NG_008100.1:g.65526C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1351C= MANE Select	ENSP00000265594.4:p.Leu451=
ENST00000265594.8:c.1351C=	ENSP00000265594.4:p.Leu451=
ENST00000476176.5:c.1210C=	ENSP00000420433.1:p.Leu404=
ENST00000492597.5:c.1024C=	ENSP00000419898.1:p.Leu342=
ENST00000495767.5:c.*932C=	ENSP00000419658.1:n.*932C=
ENST00000497830.5:c.*948C=	ENSP00000420088.1:n.*948C=
ENST00000497959.5:c.1237C=	ENSP00000420648.1:p.Leu413=
ENST00000539926.5:c.901C=	ENSP00000441253.2:p.Leu301=
ENST00000610757.4:c.901C=	ENSP00000480435.1:p.Leu301=
ENST00000629669.2:c.1237C=	ENSP00000486824.1:p.Leu413=
NM_001293273.1:c.1000C=	NP_001280202.1:p.Leu334=
NM_020166.4:c.1351C=	NP_064551.3:p.Leu451=
NR_120639.1:n.1265C=
NR_120640.1:n.2018C=
XM_006713702.1:c.1024C=	XP_006713765.1:p.Leu342=
XM_011512992.1:c.1237C=	XP_011511294.1:p.Leu413=
XM_011512993.1:c.1351C=	XP_011511295.1:p.Leu451=
XR_241502.2:n.1498C=
XR_924159.1:n.1498C=
NM_001363880.1:c.1024C=	NP_001350809.1:p.Leu342=
XM_011512992.2:c.1237C=	XP_011511294.1:p.Leu413=
XR_001740207.2:n.1474C=
XR_001740208.2:n.1474C=
XR_001740209.2:n.1444C=
XR_001740210.1:n.1304C=
XR_002959553.1:n.1474C=
XR_002959554.1:n.1474C=
XR_241502.3:n.1444C=
NM_020166.5:c.1351C= MANE Select	NP_064551.3:p.Leu451=
NM_001293273.2:c.1000C=	NP_001280202.1:p.Leu334=
NR_120639.2:n.1174C=
NR_120640.2:n.2018C=