Canonical Allele Identifier: CA292031

Gene: MCCC1

Linked Data

• ClinVar Variation Id: 138181
• ClinVar RCV Id: RCV000126700 ; RCV000872405 ; RCV001273489
• dbSNP Id: rs35706839
• ExAC: 3:182733255 C / T
• gnomAD v2: 3-182733255-C-T
• gnomAD v3: 3-183015467-C-T
• gnomAD v4: 3-183015467-C-T
• MyVariant Identifiers: chr3:g.182733255C>T (hg19) ; chr3:g.183015467C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183015467C>T , CM000665.2:g.183015467C>T	GRCh38
NC_000003.11:g.182733255C>T , CM000665.1:g.182733255C>T	GRCh37
NC_000003.10:g.184215949C>T	NCBI36
NG_008100.1:g.89111G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.2149G>A MANE Select	ENSP00000265594.4:p.Glu717Lys
ENST00000265594.8:c.2149G>A	ENSP00000265594.4:p.Glu717Lys
ENST00000464601.5:n.581G>A
ENST00000492597.5:c.1822G>A	ENSP00000419898.1:p.Glu608Lys
ENST00000497830.5:c.*1746G>A	ENSP00000420088.1:n.*1746G>A
ENST00000497959.5:c.*610G>A	ENSP00000420648.1:n.*610G>A
ENST00000539926.5:c.1699G>A	ENSP00000441253.2:p.Glu567Lys
ENST00000610757.4:c.1699G>A	ENSP00000480435.1:p.Glu567Lys
ENST00000629669.2:c.*513G>A	ENSP00000486824.1:n.*513G>A
NM_001293273.1:c.1798G>A	NP_001280202.1:p.Glu600Lys
NM_020166.4:c.2149G>A	NP_064551.3:p.Glu717Lys
NR_120639.1:n.2013G>A
NR_120640.1:n.2696G>A
XM_006713702.1:c.1822G>A	XP_006713765.1:p.Glu608Lys
XM_011512992.1:c.2035G>A	XP_011511294.1:p.Glu679Lys
XR_241502.2:n.2079G>A
NM_001363880.1:c.1822G>A	NP_001350809.1:p.Glu608Lys
XM_011512992.2:c.2035G>A	XP_011511294.1:p.Glu679Lys
XR_001740207.2:n.2369G>A
XR_001740208.2:n.2222G>A
XR_001740209.2:n.1975G>A
XR_001740210.1:n.2052G>A
XR_241502.3:n.2025G>A
NM_020166.5:c.2149G>A MANE Select	NP_064551.3:p.Glu717Lys
NM_001293273.2:c.1798G>A	NP_001280202.1:p.Glu600Lys
NR_120639.2:n.1922G>A
NR_120640.2:n.2696G>A