Canonical Allele Identifier: CA355320332

Gene: MCCC1

Linked Data

• MyVariant Identifiers: chr3:g.182755084C>T (hg19) ; chr3:g.183037296C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037296C>T , CM000665.2:g.183037296C>T	GRCh38
NC_000003.11:g.182755084C>T , CM000665.1:g.182755084C>T	GRCh37
NC_000003.10:g.184237778C>T	NCBI36
NG_008100.1:g.67282G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1516G>A MANE Select	ENSP00000265594.4:p.Glu506Lys
ENST00000265594.8:c.1516G>A	ENSP00000265594.4:p.Glu506Lys
ENST00000476176.5:c.1375G>A	ENSP00000420433.1:p.Glu459Lys
ENST00000489909.1:n.60G>A
ENST00000492597.5:c.1189G>A	ENSP00000419898.1:p.Glu397Lys
ENST00000495767.5:c.*1097G>A	ENSP00000419658.1:n.*1097G>A
ENST00000497830.5:c.*1113G>A	ENSP00000420088.1:n.*1113G>A
ENST00000497959.5:c.1263+1730G>A	ENSP00000420648.1:n.1263+1730G>A
ENST00000539926.5:c.1066G>A	ENSP00000441253.2:p.Glu356Lys
ENST00000610757.4:c.1066G>A	ENSP00000480435.1:p.Glu356Lys
ENST00000629669.2:c.1263+1730G>A	ENSP00000486824.1:n.1263+1730G>A
NM_001293273.1:c.1165G>A	NP_001280202.1:p.Glu389Lys
NM_020166.4:c.1516G>A	NP_064551.3:p.Glu506Lys
NR_120639.1:n.1430G>A
NR_120640.1:n.2044+1730G>A
XM_006713702.1:c.1189G>A	XP_006713765.1:p.Glu397Lys
XM_011512992.1:c.1402G>A	XP_011511294.1:p.Glu468Lys
XM_011512993.1:c.1377+1730G>A	XP_011511295.1:n.1377+1730G>A
XR_241502.2:n.1524+1730G>A
XR_924159.1:n.1663G>A
NM_001363880.1:c.1189G>A	NP_001350809.1:p.Glu397Lys
XM_011512992.2:c.1402G>A	XP_011511294.1:p.Glu468Lys
XR_001740207.2:n.1639G>A
XR_001740208.2:n.1639G>A
XR_001740209.2:n.1470+1730G>A
XR_001740210.1:n.1469G>A
XR_002959553.1:n.1639G>A
XR_002959554.1:n.1500+1730G>A
XR_241502.3:n.1470+1730G>A
NM_020166.5:c.1516G>A MANE Select	NP_064551.3:p.Glu506Lys
NM_001293273.2:c.1165G>A	NP_001280202.1:p.Glu389Lys
NR_120639.2:n.1339G>A
NR_120640.2:n.2044+1730G>A