Canonical Allele Identifier: CA355323050

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183041681T>C , CM000665.2:g.183041681T>C	GRCh38
NC_000003.11:g.182759469T>C , CM000665.1:g.182759469T>C	GRCh37
NC_000003.10:g.184242163T>C	NCBI36
NG_008100.1:g.62897A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.1153A>G MANE Select	NP_064551.3:p.Arg385Gly
ENST00000265594.9:c.1153A>G MANE Select	ENSP00000265594.4:p.Arg385Gly
NM_001293273.1:c.802A>G	NP_001280202.1:p.Arg268Gly
NM_001293273.2:c.802A>G	NP_001280202.1:p.Arg268Gly
NM_001363880.1:c.826A>G	NP_001350809.1:p.Arg276Gly
NM_020166.4:c.1153A>G	NP_064551.3:p.Arg385Gly
NR_120639.1:n.1067A>G
NR_120639.2:n.976A>G
NR_120640.1:n.1820A>G
NR_120640.2:n.1820A>G
ENST00000265594.8:c.1153A>G	ENSP00000265594.4:p.Arg385Gly
ENST00000476176.5:c.1012A>G	ENSP00000420433.1:p.Arg338Gly
ENST00000492597.5:c.826A>G	ENSP00000419898.1:p.Arg276Gly
ENST00000495767.5:c.*734A>G	ENSP00000419658.1:n.*734A>G
ENST00000497830.5:c.*750A>G	ENSP00000420088.1:n.*750A>G
ENST00000497959.5:c.1039A>G	ENSP00000420648.1:p.Arg347Gly
ENST00000539926.5:c.703A>G	ENSP00000441253.2:p.Arg235Gly
ENST00000610757.4:c.703A>G	ENSP00000480435.1:p.Arg235Gly
ENST00000629669.2:c.1039A>G	ENSP00000486824.1:p.Arg347Gly
XM_006713702.1:c.826A>G	XP_006713765.1:p.Arg276Gly
XM_011512992.1:c.1039A>G	XP_011511294.1:p.Arg347Gly
XM_011512992.2:c.1039A>G	XP_011511294.1:p.Arg347Gly
XM_011512993.1:c.1153A>G	XP_011511295.1:p.Arg385Gly
XR_001740207.2:n.1276A>G
XR_001740208.2:n.1276A>G
XR_001740209.2:n.1246A>G
XR_001740210.1:n.1106A>G
XR_002959553.1:n.1276A>G
XR_002959554.1:n.1276A>G
XR_241502.2:n.1300A>G
XR_241502.3:n.1246A>G
XR_924159.1:n.1300A>G