Canonical Allele Identifier: CA355318339

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183034021T>A , CM000665.2:g.183034021T>A	GRCh38
NC_000003.11:g.182751809T>A , CM000665.1:g.182751809T>A	GRCh37
NC_000003.10:g.184234503T>A	NCBI36
NG_008100.1:g.70557A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.1651A>T MANE Select	NP_064551.3:p.Arg551Ter
ENST00000265594.9:c.1651A>T MANE Select	ENSP00000265594.4:p.Arg551Ter
NM_001293273.1:c.1300A>T	NP_001280202.1:p.Arg434Ter
NM_001293273.2:c.1300A>T	NP_001280202.1:p.Arg434Ter
NM_001363880.1:c.1324A>T	NP_001350809.1:p.Arg442Ter
NM_020166.4:c.1651A>T	NP_064551.3:p.Arg551Ter
NR_120639.1:n.1565A>T
NR_120639.2:n.1474A>T
NR_120640.1:n.2101A>T
NR_120640.2:n.2101A>T
ENST00000265594.8:c.1651A>T	ENSP00000265594.4:p.Arg551Ter
ENST00000476176.5:c.1510A>T	ENSP00000420433.1:p.Arg504Ter
ENST00000489909.1:n.195A>T
ENST00000492597.5:c.1324A>T	ENSP00000419898.1:p.Arg442Ter
ENST00000495767.5:c.*1232A>T	ENSP00000419658.1:n.*1232A>T
ENST00000497830.5:c.*1248A>T	ENSP00000420088.1:n.*1248A>T
ENST00000497959.5:c.*15A>T	ENSP00000420648.1:n.*15A>T
ENST00000539926.5:c.1201A>T	ENSP00000441253.2:p.Arg401Ter
ENST00000610757.4:c.1201A>T	ENSP00000480435.1:p.Arg401Ter
ENST00000629669.2:c.*15A>T	ENSP00000486824.1:n.*15A>T
XM_006713702.1:c.1324A>T	XP_006713765.1:p.Arg442Ter
XM_011512992.1:c.1537A>T	XP_011511294.1:p.Arg513Ter
XM_011512992.2:c.1537A>T	XP_011511294.1:p.Arg513Ter
XM_011512993.1:c.*15A>T	XP_011511295.1:n.*15A>T
XR_001740207.2:n.1774A>T
XR_001740208.2:n.1774A>T
XR_001740209.2:n.1527A>T
XR_001740210.1:n.1604A>T
XR_002959553.1:n.1774A>T
XR_002959554.1:n.1557A>T
XR_241502.2:n.1581A>T
XR_241502.3:n.1527A>T
XR_924159.1:n.1798A>T