Canonical Allele Identifier: CA251975

Gene: MCCC1

Linked Data

• ClinVar Variation Id: 1929
• ClinVar RCV Id: RCV000002006 ; RCV000081995 ; RCV000614611
• dbSNP Id: rs119103212
• ExAC: 3:182763310 A / C
• gnomAD v2: 3-182763310-A-C
• gnomAD v3: 3-183045522-A-C
• gnomAD v4: 3-183045522-A-C
• MyVariant Identifiers: chr3:g.182763310A>C (hg19) ; chr3:g.183045522A>C (hg38)
• PubMed: PMID:11170888 ; PMID:25356967

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183045522A>C , CM000665.2:g.183045522A>C	GRCh38
NC_000003.11:g.182763310A>C , CM000665.1:g.182763310A>C	GRCh37
NC_000003.10:g.184246004A>C	NCBI36
NG_008100.1:g.59056T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.974T>G MANE Select	ENSP00000265594.4:p.Met325Arg
ENST00000265594.8:c.974T>G	ENSP00000265594.4:p.Met325Arg
ENST00000476176.5:c.833T>G	ENSP00000420433.1:p.Met278Arg
ENST00000492597.5:c.647T>G	ENSP00000419898.1:p.Met216Arg
ENST00000495767.5:c.*555T>G	ENSP00000419658.1:n.*555T>G
ENST00000497830.5:c.*571T>G	ENSP00000420088.1:n.*571T>G
ENST00000497959.5:c.860T>G	ENSP00000420648.1:p.Met287Arg
ENST00000539926.5:c.524T>G	ENSP00000441253.2:p.Met175Arg
ENST00000610757.4:c.524T>G	ENSP00000480435.1:p.Met175Arg
ENST00000629669.2:c.860T>G	ENSP00000486824.1:p.Met287Arg
NM_001293273.1:c.623T>G	NP_001280202.1:p.Met208Arg
NM_020166.4:c.974T>G	NP_064551.3:p.Met325Arg
NR_120639.1:n.888T>G
NR_120640.1:n.1641T>G
XM_006713702.1:c.647T>G	XP_006713765.1:p.Met216Arg
XM_011512992.1:c.860T>G	XP_011511294.1:p.Met287Arg
XM_011512993.1:c.974T>G	XP_011511295.1:p.Met325Arg
XR_241502.2:n.1121T>G
XR_924159.1:n.1121T>G
NM_001363880.1:c.647T>G	NP_001350809.1:p.Met216Arg
XM_011512992.2:c.860T>G	XP_011511294.1:p.Met287Arg
XR_001740207.2:n.1097T>G
XR_001740208.2:n.1097T>G
XR_001740209.2:n.1067T>G
XR_001740210.1:n.927T>G
XR_002959553.1:n.1097T>G
XR_002959554.1:n.1097T>G
XR_241502.3:n.1067T>G
NM_020166.5:c.974T>G MANE Select	NP_064551.3:p.Met325Arg
NM_001293273.2:c.623T>G	NP_001280202.1:p.Met208Arg
NR_120639.2:n.797T>G
NR_120640.2:n.1641T>G