Canonical Allele Identifier: CA437089650

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183022435A>G , CM000665.2:g.183022435A>G	GRCh38
NC_000003.11:g.182740223A>G , CM000665.1:g.182740223A>G	GRCh37
NC_000003.10:g.184222917A>G	NCBI36
NG_008100.1:g.82143T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1851T>C MANE Select	ENSP00000265594.4:p.Thr617=
ENST00000265594.8:c.1851T>C	ENSP00000265594.4:p.Thr617=
ENST00000464601.5:n.283T>C
ENST00000476176.5:c.1710T>C	ENSP00000420433.1:p.Thr570=
ENST00000492597.5:c.1524T>C	ENSP00000419898.1:p.Thr508=
ENST00000495767.5:c.*1382T>C	ENSP00000419658.1:n.*1382T>C
ENST00000497830.5:c.*1448T>C	ENSP00000420088.1:n.*1448T>C
ENST00000497959.5:c.*312T>C	ENSP00000420648.1:n.*312T>C
ENST00000539926.5:c.1401T>C	ENSP00000441253.2:p.Thr467=
ENST00000610757.4:c.1401T>C	ENSP00000480435.1:p.Thr467=
ENST00000629669.2:c.*215T>C	ENSP00000486824.1:n.*215T>C
NM_001293273.1:c.1500T>C	NP_001280202.1:p.Thr500=
NM_020166.4:c.1851T>C	NP_064551.3:p.Thr617=
NR_120639.1:n.1715T>C
NR_120640.1:n.2398T>C
XM_006713702.1:c.1524T>C	XP_006713765.1:p.Thr508=
XM_011512992.1:c.1737T>C	XP_011511294.1:p.Thr579=
XR_241502.2:n.1781T>C
NM_001363880.1:c.1524T>C	NP_001350809.1:p.Thr508=
XM_011512992.2:c.1737T>C	XP_011511294.1:p.Thr579=
XR_001740207.2:n.2071T>C
XR_001740208.2:n.1924T>C
XR_001740209.2:n.1677T>C
XR_001740210.1:n.1754T>C
XR_241502.3:n.1727T>C
NM_020166.5:c.1851T>C MANE Select	NP_064551.3:p.Thr617=
NM_001293273.2:c.1500T>C	NP_001280202.1:p.Thr500=
NR_120639.2:n.1624T>C
NR_120640.2:n.2398T>C