Canonical Allele Identifier: CA437089723

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183022453C>T , CM000665.2:g.183022453C>T	GRCh38
NC_000003.11:g.182740241C>T , CM000665.1:g.182740241C>T	GRCh37
NC_000003.10:g.184222935C>T	NCBI36
NG_008100.1:g.82125G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1833G>A MANE Select	ENSP00000265594.4:p.Leu611=
ENST00000265594.8:c.1833G>A	ENSP00000265594.4:p.Leu611=
ENST00000464601.5:n.265G>A
ENST00000476176.5:c.1692G>A	ENSP00000420433.1:p.Leu564=
ENST00000492597.5:c.1506G>A	ENSP00000419898.1:p.Leu502=
ENST00000495767.5:c.*1364G>A	ENSP00000419658.1:n.*1364G>A
ENST00000497830.5:c.*1430G>A	ENSP00000420088.1:n.*1430G>A
ENST00000497959.5:c.*294G>A	ENSP00000420648.1:n.*294G>A
ENST00000539926.5:c.1383G>A	ENSP00000441253.2:p.Leu461=
ENST00000610757.4:c.1383G>A	ENSP00000480435.1:p.Leu461=
ENST00000629669.2:c.*197G>A	ENSP00000486824.1:n.*197G>A
NM_001293273.1:c.1482G>A	NP_001280202.1:p.Leu494=
NM_020166.4:c.1833G>A	NP_064551.3:p.Leu611=
NR_120639.1:n.1697G>A
NR_120640.1:n.2380G>A
XM_006713702.1:c.1506G>A	XP_006713765.1:p.Leu502=
XM_011512992.1:c.1719G>A	XP_011511294.1:p.Leu573=
XR_241502.2:n.1763G>A
NM_001363880.1:c.1506G>A	NP_001350809.1:p.Leu502=
XM_011512992.2:c.1719G>A	XP_011511294.1:p.Leu573=
XR_001740207.2:n.2053G>A
XR_001740208.2:n.1906G>A
XR_001740209.2:n.1659G>A
XR_001740210.1:n.1736G>A
XR_241502.3:n.1709G>A
NM_020166.5:c.1833G>A MANE Select	NP_064551.3:p.Leu611=
NM_001293273.2:c.1482G>A	NP_001280202.1:p.Leu494=
NR_120639.2:n.1606G>A
NR_120640.2:n.2380G>A