Canonical Allele Identifier: CA355321849

Gene: MCCC1

Linked Data

• dbSNP Id: rs1713851507
• gnomAD v4: 3-183039052-G-C
• MyVariant Identifiers: chr3:g.182756840G>C (hg19) ; chr3:g.183039052G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039052G>C , CM000665.2:g.183039052G>C	GRCh38
NC_000003.11:g.182756840G>C , CM000665.1:g.182756840G>C	GRCh37
NC_000003.10:g.184239534G>C	NCBI36
NG_008100.1:g.65526C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1351C>G MANE Select	ENSP00000265594.4:p.Leu451Val
ENST00000265594.8:c.1351C>G	ENSP00000265594.4:p.Leu451Val
ENST00000476176.5:c.1210C>G	ENSP00000420433.1:p.Leu404Val
ENST00000492597.5:c.1024C>G	ENSP00000419898.1:p.Leu342Val
ENST00000495767.5:c.*932C>G	ENSP00000419658.1:n.*932C>G
ENST00000497830.5:c.*948C>G	ENSP00000420088.1:n.*948C>G
ENST00000497959.5:c.1237C>G	ENSP00000420648.1:p.Leu413Val
ENST00000539926.5:c.901C>G	ENSP00000441253.2:p.Leu301Val
ENST00000610757.4:c.901C>G	ENSP00000480435.1:p.Leu301Val
ENST00000629669.2:c.1237C>G	ENSP00000486824.1:p.Leu413Val
NM_001293273.1:c.1000C>G	NP_001280202.1:p.Leu334Val
NM_020166.4:c.1351C>G	NP_064551.3:p.Leu451Val
NR_120639.1:n.1265C>G
NR_120640.1:n.2018C>G
XM_006713702.1:c.1024C>G	XP_006713765.1:p.Leu342Val
XM_011512992.1:c.1237C>G	XP_011511294.1:p.Leu413Val
XM_011512993.1:c.1351C>G	XP_011511295.1:p.Leu451Val
XR_241502.2:n.1498C>G
XR_924159.1:n.1498C>G
NM_001363880.1:c.1024C>G	NP_001350809.1:p.Leu342Val
XM_011512992.2:c.1237C>G	XP_011511294.1:p.Leu413Val
XR_001740207.2:n.1474C>G
XR_001740208.2:n.1474C>G
XR_001740209.2:n.1444C>G
XR_001740210.1:n.1304C>G
XR_002959553.1:n.1474C>G
XR_002959554.1:n.1474C>G
XR_241502.3:n.1444C>G
NM_020166.5:c.1351C>G MANE Select	NP_064551.3:p.Leu451Val
NM_001293273.2:c.1000C>G	NP_001280202.1:p.Leu334Val
NR_120639.2:n.1174C>G
NR_120640.2:n.2018C>G