Canonical Allele Identifier: CA355322005

Gene: MCCC1

Linked Data

• MyVariant Identifiers: chr3:g.182756890A>G (hg19) ; chr3:g.183039102A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039102A>G , CM000665.2:g.183039102A>G	GRCh38
NC_000003.11:g.182756890A>G , CM000665.1:g.182756890A>G	GRCh37
NC_000003.10:g.184239584A>G	NCBI36
NG_008100.1:g.65476T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1301T>C MANE Select	ENSP00000265594.4:p.Ile434Thr
ENST00000265594.8:c.1301T>C	ENSP00000265594.4:p.Ile434Thr
ENST00000476176.5:c.1160T>C	ENSP00000420433.1:p.Ile387Thr
ENST00000492597.5:c.974T>C	ENSP00000419898.1:p.Ile325Thr
ENST00000495767.5:c.*882T>C	ENSP00000419658.1:n.*882T>C
ENST00000497830.5:c.*898T>C	ENSP00000420088.1:n.*898T>C
ENST00000497959.5:c.1187T>C	ENSP00000420648.1:p.Ile396Thr
ENST00000539926.5:c.851T>C	ENSP00000441253.2:p.Ile284Thr
ENST00000610757.4:c.851T>C	ENSP00000480435.1:p.Ile284Thr
ENST00000629669.2:c.1187T>C	ENSP00000486824.1:p.Ile396Thr
NM_001293273.1:c.950T>C	NP_001280202.1:p.Ile317Thr
NM_020166.4:c.1301T>C	NP_064551.3:p.Ile434Thr
NR_120639.1:n.1215T>C
NR_120640.1:n.1968T>C
XM_006713702.1:c.974T>C	XP_006713765.1:p.Ile325Thr
XM_011512992.1:c.1187T>C	XP_011511294.1:p.Ile396Thr
XM_011512993.1:c.1301T>C	XP_011511295.1:p.Ile434Thr
XR_241502.2:n.1448T>C
XR_924159.1:n.1448T>C
NM_001363880.1:c.974T>C	NP_001350809.1:p.Ile325Thr
XM_011512992.2:c.1187T>C	XP_011511294.1:p.Ile396Thr
XR_001740207.2:n.1424T>C
XR_001740208.2:n.1424T>C
XR_001740209.2:n.1394T>C
XR_001740210.1:n.1254T>C
XR_002959553.1:n.1424T>C
XR_002959554.1:n.1424T>C
XR_241502.3:n.1394T>C
NM_020166.5:c.1301T>C MANE Select	NP_064551.3:p.Ile434Thr
NM_001293273.2:c.950T>C	NP_001280202.1:p.Ile317Thr
NR_120639.2:n.1124T>C
NR_120640.2:n.1968T>C