Canonical Allele Identifier: CA355315285

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183020199G>C , CM000665.2:g.183020199G>C	GRCh38
NC_000003.11:g.182737987G>C , CM000665.1:g.182737987G>C	GRCh37
NC_000003.10:g.184220681G>C	NCBI36
NG_008100.1:g.84379C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.1908C>G MANE Select	NP_064551.3:p.Tyr636Ter
ENST00000265594.9:c.1908C>G MANE Select	ENSP00000265594.4:p.Tyr636Ter
NM_001293273.1:c.1557C>G	NP_001280202.1:p.Tyr519Ter
NM_001293273.2:c.1557C>G	NP_001280202.1:p.Tyr519Ter
NM_001363880.1:c.1581C>G	NP_001350809.1:p.Tyr527Ter
NM_020166.4:c.1908C>G	NP_064551.3:p.Tyr636Ter
NR_120639.1:n.1772C>G
NR_120639.2:n.1681C>G
NR_120640.1:n.2455C>G
NR_120640.2:n.2455C>G
ENST00000265594.8:c.1908C>G	ENSP00000265594.4:p.Tyr636Ter
ENST00000464601.5:n.340C>G
ENST00000476176.5:c.1767C>G	ENSP00000420433.1:p.Tyr589Ter
ENST00000492597.5:c.1581C>G	ENSP00000419898.1:p.Tyr527Ter
ENST00000495767.5:c.*1439C>G	ENSP00000419658.1:n.*1439C>G
ENST00000497830.5:c.*1505C>G	ENSP00000420088.1:n.*1505C>G
ENST00000497959.5:c.*369C>G	ENSP00000420648.1:n.*369C>G
ENST00000539926.5:c.1458C>G	ENSP00000441253.2:p.Tyr486Ter
ENST00000610757.4:c.1458C>G	ENSP00000480435.1:p.Tyr486Ter
ENST00000629669.2:c.*272C>G	ENSP00000486824.1:n.*272C>G
XM_006713702.1:c.1581C>G	XP_006713765.1:p.Tyr527Ter
XM_011512992.1:c.1794C>G	XP_011511294.1:p.Tyr598Ter
XM_011512992.2:c.1794C>G	XP_011511294.1:p.Tyr598Ter
XR_001740207.2:n.2128C>G
XR_001740208.2:n.1981C>G
XR_001740209.2:n.1734C>G
XR_001740210.1:n.1811C>G
XR_241502.2:n.1838C>G
XR_241502.3:n.1784C>G