Canonical Allele Identifier: CA1425382968

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039079C= , CM000665.2:g.183039079C=	GRCh38
NC_000003.11:g.182756867C= , CM000665.1:g.182756867C=	GRCh37
NC_000003.10:g.184239561C=	NCBI36
NG_008100.1:g.65499G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1324G= MANE Select	ENSP00000265594.4:p.Ala442=
ENST00000265594.8:c.1324G=	ENSP00000265594.4:p.Ala442=
ENST00000476176.5:c.1183G=	ENSP00000420433.1:p.Ala395=
ENST00000492597.5:c.997G=	ENSP00000419898.1:p.Ala333=
ENST00000495767.5:c.*905G=	ENSP00000419658.1:n.*905G=
ENST00000497830.5:c.*921G=	ENSP00000420088.1:n.*921G=
ENST00000497959.5:c.1210G=	ENSP00000420648.1:p.Ala404=
ENST00000539926.5:c.874G=	ENSP00000441253.2:p.Ala292=
ENST00000610757.4:c.874G=	ENSP00000480435.1:p.Ala292=
ENST00000629669.2:c.1210G=	ENSP00000486824.1:p.Ala404=
NM_001293273.1:c.973G=	NP_001280202.1:p.Ala325=
NM_020166.4:c.1324G=	NP_064551.3:p.Ala442=
NR_120639.1:n.1238G=
NR_120640.1:n.1991G=
XM_006713702.1:c.997G=	XP_006713765.1:p.Ala333=
XM_011512992.1:c.1210G=	XP_011511294.1:p.Ala404=
XM_011512993.1:c.1324G=	XP_011511295.1:p.Ala442=
XR_241502.2:n.1471G=
XR_924159.1:n.1471G=
NM_001363880.1:c.997G=	NP_001350809.1:p.Ala333=
XM_011512992.2:c.1210G=	XP_011511294.1:p.Ala404=
XR_001740207.2:n.1447G=
XR_001740208.2:n.1447G=
XR_001740209.2:n.1417G=
XR_001740210.1:n.1277G=
XR_002959553.1:n.1447G=
XR_002959554.1:n.1447G=
XR_241502.3:n.1417G=
NM_020166.5:c.1324G= MANE Select	NP_064551.3:p.Ala442=
NM_001293273.2:c.973G=	NP_001280202.1:p.Ala325=
NR_120639.2:n.1147G=
NR_120640.2:n.1991G=