Canonical Allele Identifier: CA1425382295

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037434T= , CM000665.2:g.183037434T=	GRCh38
NC_000003.11:g.182755222T= , CM000665.1:g.182755222T=	GRCh37
NC_000003.10:g.184237916T=	NCBI36
NG_008100.1:g.67144A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1378A= MANE Select	ENSP00000265594.4:p.Ile460=
ENST00000265594.8:c.1378A=	ENSP00000265594.4:p.Ile460=
ENST00000476176.5:c.1237A=	ENSP00000420433.1:p.Ile413=
ENST00000492597.5:c.1051A=	ENSP00000419898.1:p.Ile351=
ENST00000495767.5:c.*959A=	ENSP00000419658.1:n.*959A=
ENST00000497830.5:c.*975A=	ENSP00000420088.1:n.*975A=
ENST00000497959.5:c.1263+1592A=	ENSP00000420648.1:n.1263+1592A=
ENST00000539926.5:c.928A=	ENSP00000441253.2:p.Ile310=
ENST00000610757.4:c.928A=	ENSP00000480435.1:p.Ile310=
ENST00000629669.2:c.1263+1592A=	ENSP00000486824.1:n.1263+1592A=
NM_001293273.1:c.1027A=	NP_001280202.1:p.Ile343=
NM_020166.4:c.1378A=	NP_064551.3:p.Ile460=
NR_120639.1:n.1292A=
NR_120640.1:n.2044+1592A=
XM_006713702.1:c.1051A=	XP_006713765.1:p.Ile351=
XM_011512992.1:c.1264A=	XP_011511294.1:p.Ile422=
XM_011512993.1:c.1377+1592A=	XP_011511295.1:n.1377+1592A=
XR_241502.2:n.1524+1592A=
XR_924159.1:n.1525A=
NM_001363880.1:c.1051A=	NP_001350809.1:p.Ile351=
XM_011512992.2:c.1264A=	XP_011511294.1:p.Ile422=
XR_001740207.2:n.1501A=
XR_001740208.2:n.1501A=
XR_001740209.2:n.1470+1592A=
XR_001740210.1:n.1331A=
XR_002959553.1:n.1501A=
XR_002959554.1:n.1500+1592A=
XR_241502.3:n.1470+1592A=
NM_020166.5:c.1378A= MANE Select	NP_064551.3:p.Ile460=
NM_001293273.2:c.1027A=	NP_001280202.1:p.Ile343=
NR_120639.2:n.1201A=
NR_120640.2:n.2044+1592A=