Canonical Allele Identifier: CA355321787
Gene: MCCC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.183039037G>C , CM000665.2:g.183039037G>C GRCh38
NC_000003.11:g.182756825G>C , CM000665.1:g.182756825G>C GRCh37
NC_000003.10:g.184239519G>C NCBI36
NG_008100.1:g.65541C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000265594.9:c.1366C>G MANE Select ENSP00000265594.4:p.Arg456Gly
ENST00000265594.8:c.1366C>G ENSP00000265594.4:p.Arg456Gly
ENST00000476176.5:c.1225C>G ENSP00000420433.1:p.Arg409Gly
ENST00000492597.5:c.1039C>G ENSP00000419898.1:p.Arg347Gly
ENST00000495767.5:c.*947C>G ENSP00000419658.1:n.*947C>G
ENST00000497830.5:c.*963C>G ENSP00000420088.1:n.*963C>G
ENST00000497959.5:c.1252C>G ENSP00000420648.1:p.Arg418Gly
ENST00000539926.5:c.916C>G ENSP00000441253.2:p.Arg306Gly
ENST00000610757.4:c.916C>G ENSP00000480435.1:p.Arg306Gly
ENST00000629669.2:c.1252C>G ENSP00000486824.1:p.Arg418Gly
NM_001293273.1:c.1015C>G NP_001280202.1:p.Arg339Gly
NM_020166.4:c.1366C>G NP_064551.3:p.Arg456Gly
NR_120639.1:n.1280C>G
NR_120640.1:n.2033C>G
XM_006713702.1:c.1039C>G XP_006713765.1:p.Arg347Gly
XM_011512992.1:c.1252C>G XP_011511294.1:p.Arg418Gly
XM_011512993.1:c.1366C>G XP_011511295.1:p.Arg456Gly
XR_241502.2:n.1513C>G
XR_924159.1:n.1513C>G
NM_001363880.1:c.1039C>G NP_001350809.1:p.Arg347Gly
XM_011512992.2:c.1252C>G XP_011511294.1:p.Arg418Gly
XR_001740207.2:n.1489C>G
XR_001740208.2:n.1489C>G
XR_001740209.2:n.1459C>G
XR_001740210.1:n.1319C>G
XR_002959553.1:n.1489C>G
XR_002959554.1:n.1489C>G
XR_241502.3:n.1459C>G
NM_020166.5:c.1366C>G MANE Select NP_064551.3:p.Arg456Gly
NM_001293273.2:c.1015C>G NP_001280202.1:p.Arg339Gly
NR_120639.2:n.1189C>G
NR_120640.2:n.2033C>G