Canonical Allele Identifier: CA2718689

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183025785C>T , CM000665.2:g.183025785C>T	GRCh38
NC_000003.11:g.182743573C>T , CM000665.1:g.182743573C>T	GRCh37
NC_000003.10:g.184226267C>T	NCBI36
NG_008100.1:g.78793G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.1701G>A MANE Select	NP_064551.3:p.Thr567=
ENST00000265594.9:c.1701G>A MANE Select	ENSP00000265594.4:p.Thr567=
NM_001293273.1:c.1350G>A	NP_001280202.1:p.Thr450=
NM_001293273.2:c.1350G>A	NP_001280202.1:p.Thr450=
NM_001363880.1:c.1374G>A	NP_001350809.1:p.Thr458=
NM_020166.4:c.1701G>A	NP_064551.3:p.Thr567=
NR_120639.1:n.1596-3231G>A
NR_120639.2:n.1505-3231G>A
NR_120640.1:n.2248G>A
NR_120640.2:n.2248G>A
ENST00000265594.8:c.1701G>A	ENSP00000265594.4:p.Thr567=
ENST00000476176.5:c.1560G>A	ENSP00000420433.1:p.Thr520=
ENST00000489909.1:n.342G>A
ENST00000492597.5:c.1374G>A	ENSP00000419898.1:p.Thr458=
ENST00000495767.5:c.*1263-3231G>A	ENSP00000419658.1:n.*1263-3231G>A
ENST00000497830.5:c.*1298G>A	ENSP00000420088.1:n.*1298G>A
ENST00000497959.5:c.*162G>A	ENSP00000420648.1:n.*162G>A
ENST00000539926.5:c.1251G>A	ENSP00000441253.2:p.Thr417=
ENST00000610757.4:c.1251G>A	ENSP00000480435.1:p.Thr417=
ENST00000629669.2:c.*65G>A	ENSP00000486824.1:n.*65G>A
XM_006713702.1:c.1374G>A	XP_006713765.1:p.Thr458=
XM_011512992.1:c.1587G>A	XP_011511294.1:p.Thr529=
XM_011512992.2:c.1587G>A	XP_011511294.1:p.Thr529=
XR_001740207.2:n.1921G>A
XR_001740208.2:n.1805-3231G>A
XR_001740209.2:n.1558-3231G>A
XR_001740210.1:n.1635-3231G>A
XR_002959554.1:n.1704G>A
XR_241502.2:n.1631G>A
XR_241502.3:n.1577G>A
XR_924159.1:n.1945G>A