Canonical Allele Identifier: CA355320315

Gene: MCCC1

Linked Data

• MyVariant Identifiers: chr3:g.182755082C>G (hg19) ; chr3:g.183037294C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037294C>G , CM000665.2:g.183037294C>G	GRCh38
NC_000003.11:g.182755082C>G , CM000665.1:g.182755082C>G	GRCh37
NC_000003.10:g.184237776C>G	NCBI36
NG_008100.1:g.67284G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1518G>C MANE Select	ENSP00000265594.4:p.Glu506Asp
ENST00000265594.8:c.1518G>C	ENSP00000265594.4:p.Glu506Asp
ENST00000476176.5:c.1377G>C	ENSP00000420433.1:p.Glu459Asp
ENST00000489909.1:n.62G>C
ENST00000492597.5:c.1191G>C	ENSP00000419898.1:p.Glu397Asp
ENST00000495767.5:c.*1099G>C	ENSP00000419658.1:n.*1099G>C
ENST00000497830.5:c.*1115G>C	ENSP00000420088.1:n.*1115G>C
ENST00000497959.5:c.1263+1732G>C	ENSP00000420648.1:n.1263+1732G>C
ENST00000539926.5:c.1068G>C	ENSP00000441253.2:p.Glu356Asp
ENST00000610757.4:c.1068G>C	ENSP00000480435.1:p.Glu356Asp
ENST00000629669.2:c.1263+1732G>C	ENSP00000486824.1:n.1263+1732G>C
NM_001293273.1:c.1167G>C	NP_001280202.1:p.Glu389Asp
NM_020166.4:c.1518G>C	NP_064551.3:p.Glu506Asp
NR_120639.1:n.1432G>C
NR_120640.1:n.2044+1732G>C
XM_006713702.1:c.1191G>C	XP_006713765.1:p.Glu397Asp
XM_011512992.1:c.1404G>C	XP_011511294.1:p.Glu468Asp
XM_011512993.1:c.1377+1732G>C	XP_011511295.1:n.1377+1732G>C
XR_241502.2:n.1524+1732G>C
XR_924159.1:n.1665G>C
NM_001363880.1:c.1191G>C	NP_001350809.1:p.Glu397Asp
XM_011512992.2:c.1404G>C	XP_011511294.1:p.Glu468Asp
XR_001740207.2:n.1641G>C
XR_001740208.2:n.1641G>C
XR_001740209.2:n.1470+1732G>C
XR_001740210.1:n.1471G>C
XR_002959553.1:n.1641G>C
XR_002959554.1:n.1500+1732G>C
XR_241502.3:n.1470+1732G>C
NM_020166.5:c.1518G>C MANE Select	NP_064551.3:p.Glu506Asp
NM_001293273.2:c.1167G>C	NP_001280202.1:p.Glu389Asp
NR_120639.2:n.1341G>C
NR_120640.2:n.2044+1732G>C