Canonical Allele Identifier: CA355327651

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183057327A>G , CM000665.2:g.183057327A>G	GRCh38
NC_000003.11:g.182775115A>G , CM000665.1:g.182775115A>G	GRCh37
NC_000003.10:g.184257809A>G	NCBI36
NG_008100.1:g.47251T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.857T>C MANE Select	ENSP00000265594.4:p.Ile286Thr
ENST00000265594.8:c.857T>C	ENSP00000265594.4:p.Ile286Thr
ENST00000476176.5:c.716T>C	ENSP00000420433.1:p.Ile239Thr
ENST00000492597.5:c.530T>C	ENSP00000419898.1:p.Ile177Thr
ENST00000495767.5:c.*438T>C	ENSP00000419658.1:n.*438T>C
ENST00000497830.5:c.*454T>C	ENSP00000420088.1:n.*454T>C
ENST00000497959.5:c.743T>C	ENSP00000420648.1:p.Ile248Thr
ENST00000539926.5:c.407T>C	ENSP00000441253.2:p.Ile136Thr
ENST00000610757.4:c.407T>C	ENSP00000480435.1:p.Ile136Thr
ENST00000629669.2:c.743T>C	ENSP00000486824.1:p.Ile248Thr
NM_001293273.1:c.506T>C	NP_001280202.1:p.Ile169Thr
NM_020166.4:c.857T>C	NP_064551.3:p.Ile286Thr
NR_120639.1:n.771T>C
NR_120640.1:n.1524T>C
XM_006713702.1:c.530T>C	XP_006713765.1:p.Ile177Thr
XM_011512992.1:c.743T>C	XP_011511294.1:p.Ile248Thr
XM_011512993.1:c.857T>C	XP_011511295.1:p.Ile286Thr
XR_241502.2:n.1004T>C
XR_924159.1:n.1004T>C
NM_001363880.1:c.530T>C	NP_001350809.1:p.Ile177Thr
XM_011512992.2:c.743T>C	XP_011511294.1:p.Ile248Thr
XR_001740207.2:n.980T>C
XR_001740208.2:n.980T>C
XR_001740209.2:n.950T>C
XR_001740210.1:n.810T>C
XR_002959553.1:n.980T>C
XR_002959554.1:n.980T>C
XR_241502.3:n.950T>C
NM_020166.5:c.857T>C MANE Select	NP_064551.3:p.Ile286Thr
NM_001293273.2:c.506T>C	NP_001280202.1:p.Ile169Thr
NR_120639.2:n.680T>C
NR_120640.2:n.1524T>C