Canonical Allele Identifier: CA355313461

Gene: MCCC1

Linked Data

• ClinVar Variation Id: 542947
• ClinVar RCV Id: RCV000653491
• dbSNP Id: rs1553848994
• MyVariant Identifiers: chr3:g.182733353T>C (hg19) ; chr3:g.183015565T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183015565T>C , CM000665.2:g.183015565T>C	GRCh38
NC_000003.11:g.182733353T>C , CM000665.1:g.182733353T>C	GRCh37
NC_000003.10:g.184216047T>C	NCBI36
NG_008100.1:g.89013A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.2051A>G MANE Select	ENSP00000265594.4:p.His684Arg
ENST00000265594.8:c.2051A>G	ENSP00000265594.4:p.His684Arg
ENST00000464601.5:n.483A>G
ENST00000492597.5:c.1724A>G	ENSP00000419898.1:p.His575Arg
ENST00000495767.5:c.*1582A>G	ENSP00000419658.1:n.*1582A>G
ENST00000497830.5:c.*1648A>G	ENSP00000420088.1:n.*1648A>G
ENST00000497959.5:c.*512A>G	ENSP00000420648.1:n.*512A>G
ENST00000539926.5:c.1601A>G	ENSP00000441253.2:p.His534Arg
ENST00000610757.4:c.1601A>G	ENSP00000480435.1:p.His534Arg
ENST00000629669.2:c.*415A>G	ENSP00000486824.1:n.*415A>G
NM_001293273.1:c.1700A>G	NP_001280202.1:p.His567Arg
NM_020166.4:c.2051A>G	NP_064551.3:p.His684Arg
NR_120639.1:n.1915A>G
NR_120640.1:n.2598A>G
XM_006713702.1:c.1724A>G	XP_006713765.1:p.His575Arg
XM_011512992.1:c.1937A>G	XP_011511294.1:p.His646Arg
XR_241502.2:n.1981A>G
NM_001363880.1:c.1724A>G	NP_001350809.1:p.His575Arg
XM_011512992.2:c.1937A>G	XP_011511294.1:p.His646Arg
XR_001740207.2:n.2271A>G
XR_001740208.2:n.2124A>G
XR_001740209.2:n.1877A>G
XR_001740210.1:n.1954A>G
XR_241502.3:n.1927A>G
NM_020166.5:c.2051A>G MANE Select	NP_064551.3:p.His684Arg
NM_001293273.2:c.1700A>G	NP_001280202.1:p.His567Arg
NR_120639.2:n.1824A>G
NR_120640.2:n.2598A>G