Canonical Allele Identifier: CA355322036

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039114T>C , CM000665.2:g.183039114T>C	GRCh38
NC_000003.11:g.182756902T>C , CM000665.1:g.182756902T>C	GRCh37
NC_000003.10:g.184239596T>C	NCBI36
NG_008100.1:g.65464A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.1289A>G MANE Select	NP_064551.3:p.Tyr430Cys
ENST00000265594.9:c.1289A>G MANE Select	ENSP00000265594.4:p.Tyr430Cys
NM_001293273.1:c.938A>G	NP_001280202.1:p.Tyr313Cys
NM_001293273.2:c.938A>G	NP_001280202.1:p.Tyr313Cys
NM_001363880.1:c.962A>G	NP_001350809.1:p.Tyr321Cys
NM_020166.4:c.1289A>G	NP_064551.3:p.Tyr430Cys
NR_120639.1:n.1203A>G
NR_120639.2:n.1112A>G
NR_120640.1:n.1956A>G
NR_120640.2:n.1956A>G
ENST00000265594.8:c.1289A>G	ENSP00000265594.4:p.Tyr430Cys
ENST00000476176.5:c.1148A>G	ENSP00000420433.1:p.Tyr383Cys
ENST00000492597.5:c.962A>G	ENSP00000419898.1:p.Tyr321Cys
ENST00000495767.5:c.*870A>G	ENSP00000419658.1:n.*870A>G
ENST00000497830.5:c.*886A>G	ENSP00000420088.1:n.*886A>G
ENST00000497959.5:c.1175A>G	ENSP00000420648.1:p.Tyr392Cys
ENST00000539926.5:c.839A>G	ENSP00000441253.2:p.Tyr280Cys
ENST00000610757.4:c.839A>G	ENSP00000480435.1:p.Tyr280Cys
ENST00000629669.2:c.1175A>G	ENSP00000486824.1:p.Tyr392Cys
XM_006713702.1:c.962A>G	XP_006713765.1:p.Tyr321Cys
XM_011512992.1:c.1175A>G	XP_011511294.1:p.Tyr392Cys
XM_011512992.2:c.1175A>G	XP_011511294.1:p.Tyr392Cys
XM_011512993.1:c.1289A>G	XP_011511295.1:p.Tyr430Cys
XR_001740207.2:n.1412A>G
XR_001740208.2:n.1412A>G
XR_001740209.2:n.1382A>G
XR_001740210.1:n.1242A>G
XR_002959553.1:n.1412A>G
XR_002959554.1:n.1412A>G
XR_241502.2:n.1436A>G
XR_241502.3:n.1382A>G
XR_924159.1:n.1436A>G