Canonical Allele Identifier: CA1425382958

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039063G= , CM000665.2:g.183039063G=	GRCh38
NC_000003.11:g.182756851G= , CM000665.1:g.182756851G=	GRCh37
NC_000003.10:g.184239545G=	NCBI36
NG_008100.1:g.65515C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1340C= MANE Select	ENSP00000265594.4:p.Ala447=
ENST00000265594.8:c.1340C=	ENSP00000265594.4:p.Ala447=
ENST00000476176.5:c.1199C=	ENSP00000420433.1:p.Ala400=
ENST00000492597.5:c.1013C=	ENSP00000419898.1:p.Ala338=
ENST00000495767.5:c.*921C=	ENSP00000419658.1:n.*921C=
ENST00000497830.5:c.*937C=	ENSP00000420088.1:n.*937C=
ENST00000497959.5:c.1226C=	ENSP00000420648.1:p.Ala409=
ENST00000539926.5:c.890C=	ENSP00000441253.2:p.Ala297=
ENST00000610757.4:c.890C=	ENSP00000480435.1:p.Ala297=
ENST00000629669.2:c.1226C=	ENSP00000486824.1:p.Ala409=
NM_001293273.1:c.989C=	NP_001280202.1:p.Ala330=
NM_020166.4:c.1340C=	NP_064551.3:p.Ala447=
NR_120639.1:n.1254C=
NR_120640.1:n.2007C=
XM_006713702.1:c.1013C=	XP_006713765.1:p.Ala338=
XM_011512992.1:c.1226C=	XP_011511294.1:p.Ala409=
XM_011512993.1:c.1340C=	XP_011511295.1:p.Ala447=
XR_241502.2:n.1487C=
XR_924159.1:n.1487C=
NM_001363880.1:c.1013C=	NP_001350809.1:p.Ala338=
XM_011512992.2:c.1226C=	XP_011511294.1:p.Ala409=
XR_001740207.2:n.1463C=
XR_001740208.2:n.1463C=
XR_001740209.2:n.1433C=
XR_001740210.1:n.1293C=
XR_002959553.1:n.1463C=
XR_002959554.1:n.1463C=
XR_241502.3:n.1433C=
NM_020166.5:c.1340C= MANE Select	NP_064551.3:p.Ala447=
NM_001293273.2:c.989C=	NP_001280202.1:p.Ala330=
NR_120639.2:n.1163C=
NR_120640.2:n.2007C=