Canonical Allele Identifier: CA355321997

Gene: MCCC1

Linked Data

• ClinVar Variation Id: 2637284
• ClinVar RCV Id: RCV003394446
• MyVariant Identifiers: chr3:g.182756885T>C (hg19) ; chr3:g.183039097T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039097T>C , CM000665.2:g.183039097T>C	GRCh38
NC_000003.11:g.182756885T>C , CM000665.1:g.182756885T>C	GRCh37
NC_000003.10:g.184239579T>C	NCBI36
NG_008100.1:g.65481A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1306A>G MANE Select	ENSP00000265594.4:p.Lys436Glu
ENST00000265594.8:c.1306A>G	ENSP00000265594.4:p.Lys436Glu
ENST00000476176.5:c.1165A>G	ENSP00000420433.1:p.Lys389Glu
ENST00000492597.5:c.979A>G	ENSP00000419898.1:p.Lys327Glu
ENST00000495767.5:c.*887A>G	ENSP00000419658.1:n.*887A>G
ENST00000497830.5:c.*903A>G	ENSP00000420088.1:n.*903A>G
ENST00000497959.5:c.1192A>G	ENSP00000420648.1:p.Lys398Glu
ENST00000539926.5:c.856A>G	ENSP00000441253.2:p.Lys286Glu
ENST00000610757.4:c.856A>G	ENSP00000480435.1:p.Lys286Glu
ENST00000629669.2:c.1192A>G	ENSP00000486824.1:p.Lys398Glu
NM_001293273.1:c.955A>G	NP_001280202.1:p.Lys319Glu
NM_020166.4:c.1306A>G	NP_064551.3:p.Lys436Glu
NR_120639.1:n.1220A>G
NR_120640.1:n.1973A>G
XM_006713702.1:c.979A>G	XP_006713765.1:p.Lys327Glu
XM_011512992.1:c.1192A>G	XP_011511294.1:p.Lys398Glu
XM_011512993.1:c.1306A>G	XP_011511295.1:p.Lys436Glu
XR_241502.2:n.1453A>G
XR_924159.1:n.1453A>G
NM_001363880.1:c.979A>G	NP_001350809.1:p.Lys327Glu
XM_011512992.2:c.1192A>G	XP_011511294.1:p.Lys398Glu
XR_001740207.2:n.1429A>G
XR_001740208.2:n.1429A>G
XR_001740209.2:n.1399A>G
XR_001740210.1:n.1259A>G
XR_002959553.1:n.1429A>G
XR_002959554.1:n.1429A>G
XR_241502.3:n.1399A>G
NM_020166.5:c.1306A>G MANE Select	NP_064551.3:p.Lys436Glu
NM_001293273.2:c.955A>G	NP_001280202.1:p.Lys319Glu
NR_120639.2:n.1129A>G
NR_120640.2:n.1973A>G