Canonical Allele Identifier: CA2718611

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183020165C>T , CM000665.2:g.183020165C>T	GRCh38
NC_000003.11:g.182737953C>T , CM000665.1:g.182737953C>T	GRCh37
NC_000003.10:g.184220647C>T	NCBI36
NG_008100.1:g.84413G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.1942G>A MANE Select	NP_064551.3:p.Gly648Ser
ENST00000265594.9:c.1942G>A MANE Select	ENSP00000265594.4:p.Gly648Ser
NM_001293273.1:c.1591G>A	NP_001280202.1:p.Gly531Ser
NM_001293273.2:c.1591G>A	NP_001280202.1:p.Gly531Ser
NM_001363880.1:c.1615G>A	NP_001350809.1:p.Gly539Ser
NM_020166.4:c.1942G>A	NP_064551.3:p.Gly648Ser
NR_120639.1:n.1806G>A
NR_120639.2:n.1715G>A
NR_120640.1:n.2489G>A
NR_120640.2:n.2489G>A
ENST00000265594.8:c.1942G>A	ENSP00000265594.4:p.Gly648Ser
ENST00000464601.5:n.374G>A
ENST00000492597.5:c.1615G>A	ENSP00000419898.1:p.Gly539Ser
ENST00000495767.5:c.*1473G>A	ENSP00000419658.1:n.*1473G>A
ENST00000497830.5:c.*1539G>A	ENSP00000420088.1:n.*1539G>A
ENST00000497959.5:c.*403G>A	ENSP00000420648.1:n.*403G>A
ENST00000539926.5:c.1492G>A	ENSP00000441253.2:p.Gly498Ser
ENST00000610757.4:c.1492G>A	ENSP00000480435.1:p.Gly498Ser
ENST00000629669.2:c.*306G>A	ENSP00000486824.1:n.*306G>A
XM_006713702.1:c.1615G>A	XP_006713765.1:p.Gly539Ser
XM_011512992.1:c.1828G>A	XP_011511294.1:p.Gly610Ser
XM_011512992.2:c.1828G>A	XP_011511294.1:p.Gly610Ser
XR_001740207.2:n.2162G>A
XR_001740208.2:n.2015G>A
XR_001740209.2:n.1768G>A
XR_001740210.1:n.1845G>A
XR_241502.2:n.1872G>A
XR_241502.3:n.1818G>A