Canonical Allele Identifier: CA180177

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183034058C>T , CM000665.2:g.183034058C>T	GRCh38
NC_000003.11:g.182751846C>T , CM000665.1:g.182751846C>T	GRCh37
NC_000003.10:g.184234540C>T	NCBI36
NG_008100.1:g.70520G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.1614G>A MANE Select	NP_064551.3:p.Ser538=
ENST00000265594.9:c.1614G>A MANE Select	ENSP00000265594.4:p.Ser538=
NM_001293273.1:c.1263G>A	NP_001280202.1:p.Ser421=
NM_001293273.2:c.1263G>A	NP_001280202.1:p.Ser421=
NM_001363880.1:c.1287G>A	NP_001350809.1:p.Ser429=
NM_020166.4:c.1614G>A	NP_064551.3:p.Ser538=
NR_120639.1:n.1528G>A
NR_120639.2:n.1437G>A
NR_120640.1:n.2064G>A
NR_120640.2:n.2064G>A
ENST00000265594.8:c.1614G>A	ENSP00000265594.4:p.Ser538=
ENST00000476176.5:c.1473G>A	ENSP00000420433.1:p.Ser491=
ENST00000489909.1:n.158G>A
ENST00000492597.5:c.1287G>A	ENSP00000419898.1:p.Ser429=
ENST00000495767.5:c.*1195G>A	ENSP00000419658.1:n.*1195G>A
ENST00000497830.5:c.*1211G>A	ENSP00000420088.1:n.*1211G>A
ENST00000497959.5:c.1283G>A	ENSP00000420648.1:p.Arg428His
ENST00000539926.5:c.1164G>A	ENSP00000441253.2:p.Ser388=
ENST00000610757.4:c.1164G>A	ENSP00000480435.1:p.Ser388=
ENST00000629669.2:c.1283G>A	ENSP00000486824.1:p.Arg428His
XM_006713702.1:c.1287G>A	XP_006713765.1:p.Ser429=
XM_011512992.1:c.1500G>A	XP_011511294.1:p.Ser500=
XM_011512992.2:c.1500G>A	XP_011511294.1:p.Ser500=
XM_011512993.1:c.1397G>A	XP_011511295.1:p.Arg466His
XR_001740207.2:n.1737G>A
XR_001740208.2:n.1737G>A
XR_001740209.2:n.1490G>A
XR_001740210.1:n.1567G>A
XR_002959553.1:n.1737G>A
XR_002959554.1:n.1520G>A
XR_241502.2:n.1544G>A
XR_241502.3:n.1490G>A
XR_924159.1:n.1761G>A