Canonical Allele Identifier: CA2718647

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183022494G>T , CM000665.2:g.183022494G>T	GRCh38
NC_000003.11:g.182740282G>T , CM000665.1:g.182740282G>T	GRCh37
NC_000003.10:g.184222976G>T	NCBI36
NG_008100.1:g.82084C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.1792C>A MANE Select	NP_064551.3:p.Leu598Met
ENST00000265594.9:c.1792C>A MANE Select	ENSP00000265594.4:p.Leu598Met
NM_001293273.1:c.1441C>A	NP_001280202.1:p.Leu481Met
NM_001293273.2:c.1441C>A	NP_001280202.1:p.Leu481Met
NM_001363880.1:c.1465C>A	NP_001350809.1:p.Leu489Met
NM_020166.4:c.1792C>A	NP_064551.3:p.Leu598Met
NR_120639.1:n.1656C>A
NR_120639.2:n.1565C>A
NR_120640.1:n.2339C>A
NR_120640.2:n.2339C>A
ENST00000265594.8:c.1792C>A	ENSP00000265594.4:p.Leu598Met
ENST00000464601.5:n.224C>A
ENST00000476176.5:c.1651C>A	ENSP00000420433.1:p.Leu551Met
ENST00000489909.1:n.433C>A
ENST00000492597.5:c.1465C>A	ENSP00000419898.1:p.Leu489Met
ENST00000495767.5:c.*1323C>A	ENSP00000419658.1:n.*1323C>A
ENST00000497830.5:c.*1389C>A	ENSP00000420088.1:n.*1389C>A
ENST00000497959.5:c.*253C>A	ENSP00000420648.1:n.*253C>A
ENST00000539926.5:c.1342C>A	ENSP00000441253.2:p.Leu448Met
ENST00000610757.4:c.1342C>A	ENSP00000480435.1:p.Leu448Met
ENST00000629669.2:c.*156C>A	ENSP00000486824.1:n.*156C>A
XM_006713702.1:c.1465C>A	XP_006713765.1:p.Leu489Met
XM_011512992.1:c.1678C>A	XP_011511294.1:p.Leu560Met
XM_011512992.2:c.1678C>A	XP_011511294.1:p.Leu560Met
XR_001740207.2:n.2012C>A
XR_001740208.2:n.1865C>A
XR_001740209.2:n.1618C>A
XR_001740210.1:n.1695C>A
XR_241502.2:n.1722C>A
XR_241502.3:n.1668C>A
XR_924159.1:n.2036C>A