Canonical Allele Identifier: CA1425382294

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037432A= , CM000665.2:g.183037432A=	GRCh38
NC_000003.11:g.182755220A= , CM000665.1:g.182755220A=	GRCh37
NC_000003.10:g.184237914A=	NCBI36
NG_008100.1:g.67146T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1380T= MANE Select	ENSP00000265594.4:p.Ile460=
ENST00000265594.8:c.1380T=	ENSP00000265594.4:p.Ile460=
ENST00000476176.5:c.1239T=	ENSP00000420433.1:p.Ile413=
ENST00000492597.5:c.1053T=	ENSP00000419898.1:p.Ile351=
ENST00000495767.5:c.*961T=	ENSP00000419658.1:n.*961T=
ENST00000497830.5:c.*977T=	ENSP00000420088.1:n.*977T=
ENST00000497959.5:c.1263+1594T=	ENSP00000420648.1:n.1263+1594T=
ENST00000539926.5:c.930T=	ENSP00000441253.2:p.Ile310=
ENST00000610757.4:c.930T=	ENSP00000480435.1:p.Ile310=
ENST00000629669.2:c.1263+1594T=	ENSP00000486824.1:n.1263+1594T=
NM_001293273.1:c.1029T=	NP_001280202.1:p.Ile343=
NM_020166.4:c.1380T=	NP_064551.3:p.Ile460=
NR_120639.1:n.1294T=
NR_120640.1:n.2044+1594T=
XM_006713702.1:c.1053T=	XP_006713765.1:p.Ile351=
XM_011512992.1:c.1266T=	XP_011511294.1:p.Ile422=
XM_011512993.1:c.1377+1594T=	XP_011511295.1:n.1377+1594T=
XR_241502.2:n.1524+1594T=
XR_924159.1:n.1527T=
NM_001363880.1:c.1053T=	NP_001350809.1:p.Ile351=
XM_011512992.2:c.1266T=	XP_011511294.1:p.Ile422=
XR_001740207.2:n.1503T=
XR_001740208.2:n.1503T=
XR_001740209.2:n.1470+1594T=
XR_001740210.1:n.1333T=
XR_002959553.1:n.1503T=
XR_002959554.1:n.1500+1594T=
XR_241502.3:n.1470+1594T=
NM_020166.5:c.1380T= MANE Select	NP_064551.3:p.Ile460=
NM_001293273.2:c.1029T=	NP_001280202.1:p.Ile343=
NR_120639.2:n.1203T=
NR_120640.2:n.2044+1594T=