Canonical Allele Identifier: CA1425382212

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037257C= , CM000665.2:g.183037257C=	GRCh38
NC_000003.11:g.182755045C= , CM000665.1:g.182755045C=	GRCh37
NC_000003.10:g.184237739C=	NCBI36
NG_008100.1:g.67321G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1555G= MANE Select	ENSP00000265594.4:p.Glu519=
ENST00000265594.8:c.1555G=	ENSP00000265594.4:p.Glu519=
ENST00000476176.5:c.1414G=	ENSP00000420433.1:p.Glu472=
ENST00000489909.1:n.99G=
ENST00000492597.5:c.1228G=	ENSP00000419898.1:p.Glu410=
ENST00000495767.5:c.*1136G=	ENSP00000419658.1:n.*1136G=
ENST00000497830.5:c.*1152G=	ENSP00000420088.1:n.*1152G=
ENST00000497959.5:c.1263+1769G=	ENSP00000420648.1:n.1263+1769G=
ENST00000539926.5:c.1105G=	ENSP00000441253.2:p.Glu369=
ENST00000610757.4:c.1105G=	ENSP00000480435.1:p.Glu369=
ENST00000629669.2:c.1263+1769G=	ENSP00000486824.1:n.1263+1769G=
NM_001293273.1:c.1204G=	NP_001280202.1:p.Glu402=
NM_020166.4:c.1555G=	NP_064551.3:p.Glu519=
NR_120639.1:n.1469G=
NR_120640.1:n.2044+1769G=
XM_006713702.1:c.1228G=	XP_006713765.1:p.Glu410=
XM_011512992.1:c.1441G=	XP_011511294.1:p.Glu481=
XM_011512993.1:c.1377+1769G=	XP_011511295.1:n.1377+1769G=
XR_241502.2:n.1524+1769G=
XR_924159.1:n.1702G=
NM_001363880.1:c.1228G=	NP_001350809.1:p.Glu410=
XM_011512992.2:c.1441G=	XP_011511294.1:p.Glu481=
XR_001740207.2:n.1678G=
XR_001740208.2:n.1678G=
XR_001740209.2:n.1470+1769G=
XR_001740210.1:n.1508G=
XR_002959553.1:n.1678G=
XR_002959554.1:n.1500+1769G=
XR_241502.3:n.1470+1769G=
NM_020166.5:c.1555G= MANE Select	NP_064551.3:p.Glu519=
NM_001293273.2:c.1204G=	NP_001280202.1:p.Glu402=
NR_120639.2:n.1378G=
NR_120640.2:n.2044+1769G=