Canonical Allele Identifier: CA355316254

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183022443C>G , CM000665.2:g.183022443C>G	GRCh38
NC_000003.11:g.182740231C>G , CM000665.1:g.182740231C>G	GRCh37
NC_000003.10:g.184222925C>G	NCBI36
NG_008100.1:g.82135G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1843G>C MANE Select	ENSP00000265594.4:p.Glu615Gln
ENST00000265594.8:c.1843G>C	ENSP00000265594.4:p.Glu615Gln
ENST00000464601.5:n.275G>C
ENST00000476176.5:c.1702G>C	ENSP00000420433.1:p.Glu568Gln
ENST00000492597.5:c.1516G>C	ENSP00000419898.1:p.Glu506Gln
ENST00000495767.5:c.*1374G>C	ENSP00000419658.1:n.*1374G>C
ENST00000497830.5:c.*1440G>C	ENSP00000420088.1:n.*1440G>C
ENST00000497959.5:c.*304G>C	ENSP00000420648.1:n.*304G>C
ENST00000539926.5:c.1393G>C	ENSP00000441253.2:p.Glu465Gln
ENST00000610757.4:c.1393G>C	ENSP00000480435.1:p.Glu465Gln
ENST00000629669.2:c.*207G>C	ENSP00000486824.1:n.*207G>C
NM_001293273.1:c.1492G>C	NP_001280202.1:p.Glu498Gln
NM_020166.4:c.1843G>C	NP_064551.3:p.Glu615Gln
NR_120639.1:n.1707G>C
NR_120640.1:n.2390G>C
XM_006713702.1:c.1516G>C	XP_006713765.1:p.Glu506Gln
XM_011512992.1:c.1729G>C	XP_011511294.1:p.Glu577Gln
XR_241502.2:n.1773G>C
NM_001363880.1:c.1516G>C	NP_001350809.1:p.Glu506Gln
XM_011512992.2:c.1729G>C	XP_011511294.1:p.Glu577Gln
XR_001740207.2:n.2063G>C
XR_001740208.2:n.1916G>C
XR_001740209.2:n.1669G>C
XR_001740210.1:n.1746G>C
XR_241502.3:n.1719G>C
NM_020166.5:c.1843G>C MANE Select	NP_064551.3:p.Glu615Gln
NM_001293273.2:c.1492G>C	NP_001280202.1:p.Glu498Gln
NR_120639.2:n.1616G>C
NR_120640.2:n.2390G>C