Canonical Allele Identifier: CA2718960

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183057358A>G , CM000665.2:g.183057358A>G	GRCh38
NC_000003.11:g.182775146A>G , CM000665.1:g.182775146A>G	GRCh37
NC_000003.10:g.184257840A>G	NCBI36
NG_008100.1:g.47220T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.826T>C MANE Select	NP_064551.3:p.Cys276Arg
ENST00000265594.9:c.826T>C MANE Select	ENSP00000265594.4:p.Cys276Arg
NM_001293273.1:c.475T>C	NP_001280202.1:p.Cys159Arg
NM_001293273.2:c.475T>C	NP_001280202.1:p.Cys159Arg
NM_001363880.1:c.499T>C	NP_001350809.1:p.Cys167Arg
NM_020166.4:c.826T>C	NP_064551.3:p.Cys276Arg
NR_120639.1:n.740T>C
NR_120639.2:n.649T>C
NR_120640.1:n.1493T>C
NR_120640.2:n.1493T>C
ENST00000265594.8:c.826T>C	ENSP00000265594.4:p.Cys276Arg
ENST00000476176.5:c.685T>C	ENSP00000420433.1:p.Cys229Arg
ENST00000492597.5:c.499T>C	ENSP00000419898.1:p.Cys167Arg
ENST00000495767.5:c.*407T>C	ENSP00000419658.1:n.*407T>C
ENST00000497830.5:c.*423T>C	ENSP00000420088.1:n.*423T>C
ENST00000497959.5:c.712T>C	ENSP00000420648.1:p.Cys238Arg
ENST00000539926.5:c.376T>C	ENSP00000441253.2:p.Cys126Arg
ENST00000610757.4:c.376T>C	ENSP00000480435.1:p.Cys126Arg
ENST00000629669.2:c.712T>C	ENSP00000486824.1:p.Cys238Arg
XM_006713702.1:c.499T>C	XP_006713765.1:p.Cys167Arg
XM_011512992.1:c.712T>C	XP_011511294.1:p.Cys238Arg
XM_011512992.2:c.712T>C	XP_011511294.1:p.Cys238Arg
XM_011512993.1:c.826T>C	XP_011511295.1:p.Cys276Arg
XR_001740207.2:n.949T>C
XR_001740208.2:n.949T>C
XR_001740209.2:n.919T>C
XR_001740210.1:n.779T>C
XR_002959553.1:n.949T>C
XR_002959554.1:n.949T>C
XR_241502.2:n.973T>C
XR_241502.3:n.919T>C
XR_924159.1:n.973T>C