Canonical Allele Identifier: CA2718561

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183015560T>C , CM000665.2:g.183015560T>C	GRCh38
NC_000003.11:g.182733348T>C , CM000665.1:g.182733348T>C	GRCh37
NC_000003.10:g.184216042T>C	NCBI36
NG_008100.1:g.89018A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.2056A>G MANE Select	ENSP00000265594.4:p.Ile686Val
ENST00000265594.8:c.2056A>G	ENSP00000265594.4:p.Ile686Val
ENST00000464601.5:n.488A>G
ENST00000492597.5:c.1729A>G	ENSP00000419898.1:p.Ile577Val
ENST00000495767.5:c.*1587A>G	ENSP00000419658.1:n.*1587A>G
ENST00000497830.5:c.*1653A>G	ENSP00000420088.1:n.*1653A>G
ENST00000497959.5:c.*517A>G	ENSP00000420648.1:n.*517A>G
ENST00000539926.5:c.1606A>G	ENSP00000441253.2:p.Ile536Val
ENST00000610757.4:c.1606A>G	ENSP00000480435.1:p.Ile536Val
ENST00000629669.2:c.*420A>G	ENSP00000486824.1:n.*420A>G
NM_001293273.1:c.1705A>G	NP_001280202.1:p.Ile569Val
NM_020166.4:c.2056A>G	NP_064551.3:p.Ile686Val
NR_120639.1:n.1920A>G
NR_120640.1:n.2603A>G
XM_006713702.1:c.1729A>G	XP_006713765.1:p.Ile577Val
XM_011512992.1:c.1942A>G	XP_011511294.1:p.Ile648Val
XR_241502.2:n.1986A>G
NM_001363880.1:c.1729A>G	NP_001350809.1:p.Ile577Val
XM_011512992.2:c.1942A>G	XP_011511294.1:p.Ile648Val
XR_001740207.2:n.2276A>G
XR_001740208.2:n.2129A>G
XR_001740209.2:n.1882A>G
XR_001740210.1:n.1959A>G
XR_241502.3:n.1932A>G
NM_020166.5:c.2056A>G MANE Select	NP_064551.3:p.Ile686Val
NM_001293273.2:c.1705A>G	NP_001280202.1:p.Ile569Val
NR_120639.2:n.1829A>G
NR_120640.2:n.2603A>G