Canonical Allele Identifier: CA355317434

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183025757G>A , CM000665.2:g.183025757G>A	GRCh38
NC_000003.11:g.182743545G>A , CM000665.1:g.182743545G>A	GRCh37
NC_000003.10:g.184226239G>A	NCBI36
NG_008100.1:g.78821C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.1729C>T MANE Select	NP_064551.3:p.Gln577Ter
ENST00000265594.9:c.1729C>T MANE Select	ENSP00000265594.4:p.Gln577Ter
NM_001293273.1:c.1378C>T	NP_001280202.1:p.Gln460Ter
NM_001293273.2:c.1378C>T	NP_001280202.1:p.Gln460Ter
NM_001363880.1:c.1402C>T	NP_001350809.1:p.Gln468Ter
NM_020166.4:c.1729C>T	NP_064551.3:p.Gln577Ter
NR_120639.1:n.1596-3203C>T
NR_120639.2:n.1505-3203C>T
NR_120640.1:n.2276C>T
NR_120640.2:n.2276C>T
ENST00000265594.8:c.1729C>T	ENSP00000265594.4:p.Gln577Ter
ENST00000476176.5:c.1588C>T	ENSP00000420433.1:p.Gln530Ter
ENST00000489909.1:n.370C>T
ENST00000492597.5:c.1402C>T	ENSP00000419898.1:p.Gln468Ter
ENST00000495767.5:c.*1263-3203C>T	ENSP00000419658.1:n.*1263-3203C>T
ENST00000497830.5:c.*1326C>T	ENSP00000420088.1:n.*1326C>T
ENST00000497959.5:c.*190C>T	ENSP00000420648.1:n.*190C>T
ENST00000539926.5:c.1279C>T	ENSP00000441253.2:p.Gln427Ter
ENST00000610757.4:c.1279C>T	ENSP00000480435.1:p.Gln427Ter
ENST00000629669.2:c.*93C>T	ENSP00000486824.1:n.*93C>T
XM_006713702.1:c.1402C>T	XP_006713765.1:p.Gln468Ter
XM_011512992.1:c.1615C>T	XP_011511294.1:p.Gln539Ter
XM_011512992.2:c.1615C>T	XP_011511294.1:p.Gln539Ter
XR_001740207.2:n.1949C>T
XR_001740208.2:n.1805-3203C>T
XR_001740209.2:n.1558-3203C>T
XR_001740210.1:n.1635-3203C>T
XR_002959554.1:n.1732C>T
XR_241502.2:n.1659C>T
XR_241502.3:n.1605C>T
XR_924159.1:n.1973C>T