Canonical Allele Identifier: CA2718660
Gene: MCCC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.183022536G>A , CM000665.2:g.183022536G>A GRCh38
NC_000003.11:g.182740324G>A , CM000665.1:g.182740324G>A GRCh37
NC_000003.10:g.184223018G>A NCBI36
NG_008100.1:g.82042C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265594.9:c.1750C>T MANE Select ENSP00000265594.4:p.Gln584Ter
ENST00000265594.8:c.1750C>T ENSP00000265594.4:p.Gln584Ter
ENST00000464601.5:n.182C>T
ENST00000476176.5:c.1609C>T ENSP00000420433.1:p.Gln537Ter
ENST00000489909.1:n.391C>T
ENST00000492597.5:c.1423C>T ENSP00000419898.1:p.Gln475Ter
ENST00000495767.5:c.*1281C>T ENSP00000419658.1:n.*1281C>T
ENST00000497830.5:c.*1347C>T ENSP00000420088.1:n.*1347C>T
ENST00000497959.5:c.*211C>T ENSP00000420648.1:n.*211C>T
ENST00000539926.5:c.1300C>T ENSP00000441253.2:p.Gln434Ter
ENST00000610757.4:c.1300C>T ENSP00000480435.1:p.Gln434Ter
ENST00000629669.2:c.*114C>T ENSP00000486824.1:n.*114C>T
NM_001293273.1:c.1399C>T NP_001280202.1:p.Gln467Ter
NM_020166.4:c.1750C>T NP_064551.3:p.Gln584Ter
NR_120639.1:n.1614C>T
NR_120640.1:n.2297C>T
XM_006713702.1:c.1423C>T XP_006713765.1:p.Gln475Ter
XM_011512992.1:c.1636C>T XP_011511294.1:p.Gln546Ter
XR_241502.2:n.1680C>T
XR_924159.1:n.1994C>T
NM_001363880.1:c.1423C>T NP_001350809.1:p.Gln475Ter
XM_011512992.2:c.1636C>T XP_011511294.1:p.Gln546Ter
XR_001740207.2:n.1970C>T
XR_001740208.2:n.1823C>T
XR_001740209.2:n.1576C>T
XR_001740210.1:n.1653C>T
XR_241502.3:n.1626C>T
NM_020166.5:c.1750C>T MANE Select NP_064551.3:p.Gln584Ter
NM_001293273.2:c.1399C>T NP_001280202.1:p.Gln467Ter
NR_120639.2:n.1523C>T
NR_120640.2:n.2297C>T