Canonical Allele Identifier: CA234240

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183071066G>A , CM000665.2:g.183071066G>A	GRCh38
NC_000003.11:g.182788854G>A , CM000665.1:g.182788854G>A	GRCh37
NC_000003.10:g.184271548G>A	NCBI36
NG_008100.1:g.33512C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.694C>T MANE Select	NP_064551.3:p.Arg232Trp
ENST00000265594.9:c.694C>T MANE Select	ENSP00000265594.4:p.Arg232Trp
NM_001293273.1:c.343C>T	NP_001280202.1:p.Arg115Trp
NM_001293273.2:c.343C>T	NP_001280202.1:p.Arg115Trp
NM_001363880.1:c.367C>T	NP_001350809.1:p.Arg123Trp
NM_020166.4:c.694C>T	NP_064551.3:p.Arg232Trp
NR_120639.1:n.608C>T
NR_120639.2:n.517C>T
NR_120640.1:n.1361C>T
NR_120640.2:n.1361C>T
ENST00000265594.8:c.694C>T	ENSP00000265594.4:p.Arg232Trp
ENST00000466650.5:c.*315C>T	ENSP00000418979.1:n.*315C>T
ENST00000476176.5:c.553C>T	ENSP00000420433.1:p.Arg185Trp
ENST00000487634.5:c.*275C>T	ENSP00000420591.1:n.*275C>T
ENST00000490284.5:c.*243C>T	ENSP00000419328.1:n.*243C>T
ENST00000492597.5:c.367C>T	ENSP00000419898.1:p.Arg123Trp
ENST00000495767.5:c.*275C>T	ENSP00000419658.1:n.*275C>T
ENST00000497830.5:c.*291C>T	ENSP00000420088.1:n.*291C>T
ENST00000497959.5:c.580C>T	ENSP00000420648.1:p.Arg194Trp
ENST00000539926.5:c.244C>T	ENSP00000441253.2:p.Arg82Trp
ENST00000610757.4:c.244C>T	ENSP00000480435.1:p.Arg82Trp
ENST00000629669.2:c.580C>T	ENSP00000486824.1:p.Arg194Trp
XM_006713702.1:c.367C>T	XP_006713765.1:p.Arg123Trp
XM_011512992.1:c.580C>T	XP_011511294.1:p.Arg194Trp
XM_011512992.2:c.580C>T	XP_011511294.1:p.Arg194Trp
XM_011512993.1:c.694C>T	XP_011511295.1:p.Arg232Trp
XR_001740207.2:n.817C>T
XR_001740208.2:n.817C>T
XR_001740209.2:n.787C>T
XR_001740210.1:n.647C>T
XR_002959553.1:n.817C>T
XR_002959554.1:n.817C>T
XR_241502.2:n.841C>T
XR_241502.3:n.787C>T
XR_924159.1:n.841C>T