Canonical Allele Identifier: CA2718666

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183022563A>T , CM000665.2:g.183022563A>T	GRCh38
NC_000003.11:g.182740351A>T , CM000665.1:g.182740351A>T	GRCh37
NC_000003.10:g.184223045A>T	NCBI36
NG_008100.1:g.82015T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.1732-9T>A MANE Select	NP_064551.3:n.1732-9T>A
ENST00000265594.9:c.1732-9T>A MANE Select	ENSP00000265594.4:n.1732-9T>A
NM_001293273.1:c.1381-9T>A	NP_001280202.1:n.1381-9T>A
NM_001293273.2:c.1381-9T>A	NP_001280202.1:n.1381-9T>A
NM_001363880.1:c.1405-9T>A	NP_001350809.1:n.1405-9T>A
NM_020166.4:c.1732-9T>A	NP_064551.3:n.1732-9T>A
NR_120639.1:n.1596-9T>A
NR_120639.2:n.1505-9T>A
NR_120640.1:n.2279-9T>A
NR_120640.2:n.2279-9T>A
ENST00000265594.8:c.1732-9T>A	ENSP00000265594.4:n.1732-9T>A
ENST00000464601.5:n.155T>A
ENST00000476176.5:c.1591-9T>A	ENSP00000420433.1:n.1591-9T>A
ENST00000489909.1:n.373-9T>A
ENST00000492597.5:c.1405-9T>A	ENSP00000419898.1:n.1405-9T>A
ENST00000495767.5:c.*1263-9T>A	ENSP00000419658.1:n.*1263-9T>A
ENST00000497830.5:c.*1329-9T>A	ENSP00000420088.1:n.*1329-9T>A
ENST00000497959.5:c.*193-9T>A	ENSP00000420648.1:n.*193-9T>A
ENST00000539926.5:c.1282-9T>A	ENSP00000441253.2:n.1282-9T>A
ENST00000610757.4:c.1282-9T>A	ENSP00000480435.1:n.1282-9T>A
ENST00000629669.2:c.*96-9T>A	ENSP00000486824.1:n.*96-9T>A
XM_006713702.1:c.1405-9T>A	XP_006713765.1:n.1405-9T>A
XM_011512992.1:c.1618-9T>A	XP_011511294.1:n.1618-9T>A
XM_011512992.2:c.1618-9T>A	XP_011511294.1:n.1618-9T>A
XR_001740207.2:n.1952-9T>A
XR_001740208.2:n.1805-9T>A
XR_001740209.2:n.1558-9T>A
XR_001740210.1:n.1635-9T>A
XR_241502.2:n.1662-9T>A
XR_241502.3:n.1608-9T>A
XR_924159.1:n.1976-9T>A