Canonical Allele Identifier: CA1425382963

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039070G= , CM000665.2:g.183039070G=	GRCh38
NC_000003.11:g.182756858G= , CM000665.1:g.182756858G=	GRCh37
NC_000003.10:g.184239552G=	NCBI36
NG_008100.1:g.65508C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1333C= MANE Select	ENSP00000265594.4:p.Gln445=
ENST00000265594.8:c.1333C=	ENSP00000265594.4:p.Gln445=
ENST00000476176.5:c.1192C=	ENSP00000420433.1:p.Gln398=
ENST00000492597.5:c.1006C=	ENSP00000419898.1:p.Gln336=
ENST00000495767.5:c.*914C=	ENSP00000419658.1:n.*914C=
ENST00000497830.5:c.*930C=	ENSP00000420088.1:n.*930C=
ENST00000497959.5:c.1219C=	ENSP00000420648.1:p.Gln407=
ENST00000539926.5:c.883C=	ENSP00000441253.2:p.Gln295=
ENST00000610757.4:c.883C=	ENSP00000480435.1:p.Gln295=
ENST00000629669.2:c.1219C=	ENSP00000486824.1:p.Gln407=
NM_001293273.1:c.982C=	NP_001280202.1:p.Gln328=
NM_020166.4:c.1333C=	NP_064551.3:p.Gln445=
NR_120639.1:n.1247C=
NR_120640.1:n.2000C=
XM_006713702.1:c.1006C=	XP_006713765.1:p.Gln336=
XM_011512992.1:c.1219C=	XP_011511294.1:p.Gln407=
XM_011512993.1:c.1333C=	XP_011511295.1:p.Gln445=
XR_241502.2:n.1480C=
XR_924159.1:n.1480C=
NM_001363880.1:c.1006C=	NP_001350809.1:p.Gln336=
XM_011512992.2:c.1219C=	XP_011511294.1:p.Gln407=
XR_001740207.2:n.1456C=
XR_001740208.2:n.1456C=
XR_001740209.2:n.1426C=
XR_001740210.1:n.1286C=
XR_002959553.1:n.1456C=
XR_002959554.1:n.1456C=
XR_241502.3:n.1426C=
NM_020166.5:c.1333C= MANE Select	NP_064551.3:p.Gln445=
NM_001293273.2:c.982C=	NP_001280202.1:p.Gln328=
NR_120639.2:n.1156C=
NR_120640.2:n.2000C=