Canonical Allele Identifier: CA2718687

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183025777T>C , CM000665.2:g.183025777T>C	GRCh38
NC_000003.11:g.182743565T>C , CM000665.1:g.182743565T>C	GRCh37
NC_000003.10:g.184226259T>C	NCBI36
NG_008100.1:g.78801A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.1709A>G MANE Select	NP_064551.3:p.His570Arg
ENST00000265594.9:c.1709A>G MANE Select	ENSP00000265594.4:p.His570Arg
NM_001293273.1:c.1358A>G	NP_001280202.1:p.His453Arg
NM_001293273.2:c.1358A>G	NP_001280202.1:p.His453Arg
NM_001363880.1:c.1382A>G	NP_001350809.1:p.His461Arg
NM_020166.4:c.1709A>G	NP_064551.3:p.His570Arg
NR_120639.1:n.1596-3223A>G
NR_120639.2:n.1505-3223A>G
NR_120640.1:n.2256A>G
NR_120640.2:n.2256A>G
ENST00000265594.8:c.1709A>G	ENSP00000265594.4:p.His570Arg
ENST00000476176.5:c.1568A>G	ENSP00000420433.1:p.His523Arg
ENST00000489909.1:n.350A>G
ENST00000492597.5:c.1382A>G	ENSP00000419898.1:p.His461Arg
ENST00000495767.5:c.*1263-3223A>G	ENSP00000419658.1:n.*1263-3223A>G
ENST00000497830.5:c.*1306A>G	ENSP00000420088.1:n.*1306A>G
ENST00000497959.5:c.*170A>G	ENSP00000420648.1:n.*170A>G
ENST00000539926.5:c.1259A>G	ENSP00000441253.2:p.His420Arg
ENST00000610757.4:c.1259A>G	ENSP00000480435.1:p.His420Arg
ENST00000629669.2:c.*73A>G	ENSP00000486824.1:n.*73A>G
XM_006713702.1:c.1382A>G	XP_006713765.1:p.His461Arg
XM_011512992.1:c.1595A>G	XP_011511294.1:p.His532Arg
XM_011512992.2:c.1595A>G	XP_011511294.1:p.His532Arg
XR_001740207.2:n.1929A>G
XR_001740208.2:n.1805-3223A>G
XR_001740209.2:n.1558-3223A>G
XR_001740210.1:n.1635-3223A>G
XR_002959554.1:n.1712A>G
XR_241502.2:n.1639A>G
XR_241502.3:n.1585A>G
XR_924159.1:n.1953A>G