Canonical Allele Identifier: CA2718577

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183017280C>T , CM000665.2:g.183017280C>T	GRCh38
NC_000003.11:g.182735068C>T , CM000665.1:g.182735068C>T	GRCh37
NC_000003.10:g.184217762C>T	NCBI36
NG_008100.1:g.87298G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.2035G>A MANE Select	ENSP00000265594.4:p.Ala679Thr
ENST00000265594.8:c.2035G>A	ENSP00000265594.4:p.Ala679Thr
ENST00000464601.5:n.467G>A
ENST00000492597.5:c.1708G>A	ENSP00000419898.1:p.Ala570Thr
ENST00000495767.5:c.*1566G>A	ENSP00000419658.1:n.*1566G>A
ENST00000497830.5:c.*1632G>A	ENSP00000420088.1:n.*1632G>A
ENST00000497959.5:c.*496G>A	ENSP00000420648.1:n.*496G>A
ENST00000539926.5:c.1585G>A	ENSP00000441253.2:p.Ala529Thr
ENST00000610757.4:c.1585G>A	ENSP00000480435.1:p.Ala529Thr
ENST00000629669.2:c.*399G>A	ENSP00000486824.1:n.*399G>A
NM_001293273.1:c.1684G>A	NP_001280202.1:p.Ala562Thr
NM_020166.4:c.2035G>A	NP_064551.3:p.Ala679Thr
NR_120639.1:n.1899G>A
NR_120640.1:n.2582G>A
XM_006713702.1:c.1708G>A	XP_006713765.1:p.Ala570Thr
XM_011512992.1:c.1921G>A	XP_011511294.1:p.Ala641Thr
XR_241502.2:n.1965G>A
NM_001363880.1:c.1708G>A	NP_001350809.1:p.Ala570Thr
XM_011512992.2:c.1921G>A	XP_011511294.1:p.Ala641Thr
XR_001740207.2:n.2255G>A
XR_001740208.2:n.2108G>A
XR_001740209.2:n.1861G>A
XR_001740210.1:n.1938G>A
XR_241502.3:n.1911G>A
NM_020166.5:c.2035G>A MANE Select	NP_064551.3:p.Ala679Thr
NM_001293273.2:c.1684G>A	NP_001280202.1:p.Ala562Thr
NR_120639.2:n.1808G>A
NR_120640.2:n.2582G>A