Canonical Allele Identifier: CA1425382219

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037268A= , CM000665.2:g.183037268A=	GRCh38
NC_000003.11:g.182755056A= , CM000665.1:g.182755056A=	GRCh37
NC_000003.10:g.184237750A=	NCBI36
NG_008100.1:g.67310T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1544T= MANE Select	ENSP00000265594.4:p.Leu515=
ENST00000265594.8:c.1544T=	ENSP00000265594.4:p.Leu515=
ENST00000476176.5:c.1403T=	ENSP00000420433.1:p.Leu468=
ENST00000489909.1:n.88T=
ENST00000492597.5:c.1217T=	ENSP00000419898.1:p.Leu406=
ENST00000495767.5:c.*1125T=	ENSP00000419658.1:n.*1125T=
ENST00000497830.5:c.*1141T=	ENSP00000420088.1:n.*1141T=
ENST00000497959.5:c.1263+1758T=	ENSP00000420648.1:n.1263+1758T=
ENST00000539926.5:c.1094T=	ENSP00000441253.2:p.Leu365=
ENST00000610757.4:c.1094T=	ENSP00000480435.1:p.Leu365=
ENST00000629669.2:c.1263+1758T=	ENSP00000486824.1:n.1263+1758T=
NM_001293273.1:c.1193T=	NP_001280202.1:p.Leu398=
NM_020166.4:c.1544T=	NP_064551.3:p.Leu515=
NR_120639.1:n.1458T=
NR_120640.1:n.2044+1758T=
XM_006713702.1:c.1217T=	XP_006713765.1:p.Leu406=
XM_011512992.1:c.1430T=	XP_011511294.1:p.Leu477=
XM_011512993.1:c.1377+1758T=	XP_011511295.1:n.1377+1758T=
XR_241502.2:n.1524+1758T=
XR_924159.1:n.1691T=
NM_001363880.1:c.1217T=	NP_001350809.1:p.Leu406=
XM_011512992.2:c.1430T=	XP_011511294.1:p.Leu477=
XR_001740207.2:n.1667T=
XR_001740208.2:n.1667T=
XR_001740209.2:n.1470+1758T=
XR_001740210.1:n.1497T=
XR_002959553.1:n.1667T=
XR_002959554.1:n.1500+1758T=
XR_241502.3:n.1470+1758T=
NM_020166.5:c.1544T= MANE Select	NP_064551.3:p.Leu515=
NM_001293273.2:c.1193T=	NP_001280202.1:p.Leu398=
NR_120639.2:n.1367T=
NR_120640.2:n.2044+1758T=