Canonical Allele Identifier: CA355322038

Gene: MCCC1

Linked Data

• ClinVar Variation Id: 1486643
• ClinVar RCV Id: RCV002003750
• dbSNP Id: rs2108474014
• MyVariant Identifiers: chr3:g.182756903A>C (hg19) ; chr3:g.183039115A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039115A>C , CM000665.2:g.183039115A>C	GRCh38
NC_000003.11:g.182756903A>C , CM000665.1:g.182756903A>C	GRCh37
NC_000003.10:g.184239597A>C	NCBI36
NG_008100.1:g.65463T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1288T>G MANE Select	ENSP00000265594.4:p.Tyr430Asp
ENST00000265594.8:c.1288T>G	ENSP00000265594.4:p.Tyr430Asp
ENST00000476176.5:c.1147T>G	ENSP00000420433.1:p.Tyr383Asp
ENST00000492597.5:c.961T>G	ENSP00000419898.1:p.Tyr321Asp
ENST00000495767.5:c.*869T>G	ENSP00000419658.1:n.*869T>G
ENST00000497830.5:c.*885T>G	ENSP00000420088.1:n.*885T>G
ENST00000497959.5:c.1174T>G	ENSP00000420648.1:p.Tyr392Asp
ENST00000539926.5:c.838T>G	ENSP00000441253.2:p.Tyr280Asp
ENST00000610757.4:c.838T>G	ENSP00000480435.1:p.Tyr280Asp
ENST00000629669.2:c.1174T>G	ENSP00000486824.1:p.Tyr392Asp
NM_001293273.1:c.937T>G	NP_001280202.1:p.Tyr313Asp
NM_020166.4:c.1288T>G	NP_064551.3:p.Tyr430Asp
NR_120639.1:n.1202T>G
NR_120640.1:n.1955T>G
XM_006713702.1:c.961T>G	XP_006713765.1:p.Tyr321Asp
XM_011512992.1:c.1174T>G	XP_011511294.1:p.Tyr392Asp
XM_011512993.1:c.1288T>G	XP_011511295.1:p.Tyr430Asp
XR_241502.2:n.1435T>G
XR_924159.1:n.1435T>G
NM_001363880.1:c.961T>G	NP_001350809.1:p.Tyr321Asp
XM_011512992.2:c.1174T>G	XP_011511294.1:p.Tyr392Asp
XR_001740207.2:n.1411T>G
XR_001740208.2:n.1411T>G
XR_001740209.2:n.1381T>G
XR_001740210.1:n.1241T>G
XR_002959553.1:n.1411T>G
XR_002959554.1:n.1411T>G
XR_241502.3:n.1381T>G
NM_020166.5:c.1288T>G MANE Select	NP_064551.3:p.Tyr430Asp
NM_001293273.2:c.937T>G	NP_001280202.1:p.Tyr313Asp
NR_120639.2:n.1111T>G
NR_120640.2:n.1955T>G