Canonical Allele Identifier: CA437092766

Gene: MCCC1

Linked Data

• MyVariant Identifiers: chr3:g.182756838C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039050C>G , CM000665.2:g.183039050C>G	GRCh38
NC_000003.11:g.182756838C>G , CM000665.1:g.182756838C>G	GRCh37
NC_000003.10:g.184239532C>G	NCBI36
NG_008100.1:g.65528G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1353G>C MANE Select	ENSP00000265594.4:p.Leu451=
ENST00000265594.8:c.1353G>C	ENSP00000265594.4:p.Leu451=
ENST00000476176.5:c.1212G>C	ENSP00000420433.1:p.Leu404=
ENST00000492597.5:c.1026G>C	ENSP00000419898.1:p.Leu342=
ENST00000495767.5:c.*934G>C	ENSP00000419658.1:n.*934G>C
ENST00000497830.5:c.*950G>C	ENSP00000420088.1:n.*950G>C
ENST00000497959.5:c.1239G>C	ENSP00000420648.1:p.Leu413=
ENST00000539926.5:c.903G>C	ENSP00000441253.2:p.Leu301=
ENST00000610757.4:c.903G>C	ENSP00000480435.1:p.Leu301=
ENST00000629669.2:c.1239G>C	ENSP00000486824.1:p.Leu413=
NM_001293273.1:c.1002G>C	NP_001280202.1:p.Leu334=
NM_020166.4:c.1353G>C	NP_064551.3:p.Leu451=
NR_120639.1:n.1267G>C
NR_120640.1:n.2020G>C
XM_006713702.1:c.1026G>C	XP_006713765.1:p.Leu342=
XM_011512992.1:c.1239G>C	XP_011511294.1:p.Leu413=
XM_011512993.1:c.1353G>C	XP_011511295.1:p.Leu451=
XR_241502.2:n.1500G>C
XR_924159.1:n.1500G>C
NM_001363880.1:c.1026G>C	NP_001350809.1:p.Leu342=
XM_011512992.2:c.1239G>C	XP_011511294.1:p.Leu413=
XR_001740207.2:n.1476G>C
XR_001740208.2:n.1476G>C
XR_001740209.2:n.1446G>C
XR_001740210.1:n.1306G>C
XR_002959553.1:n.1476G>C
XR_002959554.1:n.1476G>C
XR_241502.3:n.1446G>C
NM_020166.5:c.1353G>C MANE Select	NP_064551.3:p.Leu451=
NM_001293273.2:c.1002G>C	NP_001280202.1:p.Leu334=
NR_120639.2:n.1176G>C
NR_120640.2:n.2020G>C