Canonical Allele Identifier: CA2718803

Gene: MCCC1

Linked Data

• ClinVar Variation Id: 951882
• ClinVar RCV Id: RCV001223882
• dbSNP Id: rs369847846
• ExAC: 3:182756825 G / A
• gnomAD v2: 3-182756825-G-A
• gnomAD v3: 3-183039037-G-A
• gnomAD v4: 3-183039037-G-A
• COSMIC: COSM1617248
• MyVariant Identifiers: chr3:g.182756825G>A (hg19) ; chr3:g.183039037G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039037G>A , CM000665.2:g.183039037G>A	GRCh38
NC_000003.11:g.182756825G>A , CM000665.1:g.182756825G>A	GRCh37
NC_000003.10:g.184239519G>A	NCBI36
NG_008100.1:g.65541C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265594.9:c.1366C>T MANE Select	ENSP00000265594.4:p.Arg456Cys
ENST00000265594.8:c.1366C>T	ENSP00000265594.4:p.Arg456Cys
ENST00000476176.5:c.1225C>T	ENSP00000420433.1:p.Arg409Cys
ENST00000492597.5:c.1039C>T	ENSP00000419898.1:p.Arg347Cys
ENST00000495767.5:c.*947C>T	ENSP00000419658.1:n.*947C>T
ENST00000497830.5:c.*963C>T	ENSP00000420088.1:n.*963C>T
ENST00000497959.5:c.1252C>T	ENSP00000420648.1:p.Arg418Cys
ENST00000539926.5:c.916C>T	ENSP00000441253.2:p.Arg306Cys
ENST00000610757.4:c.916C>T	ENSP00000480435.1:p.Arg306Cys
ENST00000629669.2:c.1252C>T	ENSP00000486824.1:p.Arg418Cys
NM_001293273.1:c.1015C>T	NP_001280202.1:p.Arg339Cys
NM_020166.4:c.1366C>T	NP_064551.3:p.Arg456Cys
NR_120639.1:n.1280C>T
NR_120640.1:n.2033C>T
XM_006713702.1:c.1039C>T	XP_006713765.1:p.Arg347Cys
XM_011512992.1:c.1252C>T	XP_011511294.1:p.Arg418Cys
XM_011512993.1:c.1366C>T	XP_011511295.1:p.Arg456Cys
XR_241502.2:n.1513C>T
XR_924159.1:n.1513C>T
NM_001363880.1:c.1039C>T	NP_001350809.1:p.Arg347Cys
XM_011512992.2:c.1252C>T	XP_011511294.1:p.Arg418Cys
XR_001740207.2:n.1489C>T
XR_001740208.2:n.1489C>T
XR_001740209.2:n.1459C>T
XR_001740210.1:n.1319C>T
XR_002959553.1:n.1489C>T
XR_002959554.1:n.1489C>T
XR_241502.3:n.1459C>T
NM_020166.5:c.1366C>T MANE Select	NP_064551.3:p.Arg456Cys
NM_001293273.2:c.1015C>T	NP_001280202.1:p.Arg339Cys
NR_120639.2:n.1189C>T
NR_120640.2:n.2033C>T