Canonical Allele Identifier: CA2718817

Gene: MCCC1

Linked Data

• ClinVar Variation Id: 664032
• ClinVar RCV Id: RCV000822030 ; RCV001575916 ; RCV003987713
• dbSNP Id: rs376289130
• ExAC: 3:182756889 A / C
• gnomAD v2: 3-182756889-A-C
• gnomAD v3: 3-183039101-A-C
• gnomAD v4: 3-183039101-A-C
• MyVariant Identifiers: chr3:g.182756889A>C (hg19) ; chr3:g.183039101A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039101A>C , CM000665.2:g.183039101A>C	GRCh38
NC_000003.11:g.182756889A>C , CM000665.1:g.182756889A>C	GRCh37
NC_000003.10:g.184239583A>C	NCBI36
NG_008100.1:g.65477T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1302T>G MANE Select	ENSP00000265594.4:p.Ile434Met
ENST00000265594.8:c.1302T>G	ENSP00000265594.4:p.Ile434Met
ENST00000476176.5:c.1161T>G	ENSP00000420433.1:p.Ile387Met
ENST00000492597.5:c.975T>G	ENSP00000419898.1:p.Ile325Met
ENST00000495767.5:c.*883T>G	ENSP00000419658.1:n.*883T>G
ENST00000497830.5:c.*899T>G	ENSP00000420088.1:n.*899T>G
ENST00000497959.5:c.1188T>G	ENSP00000420648.1:p.Ile396Met
ENST00000539926.5:c.852T>G	ENSP00000441253.2:p.Ile284Met
ENST00000610757.4:c.852T>G	ENSP00000480435.1:p.Ile284Met
ENST00000629669.2:c.1188T>G	ENSP00000486824.1:p.Ile396Met
NM_001293273.1:c.951T>G	NP_001280202.1:p.Ile317Met
NM_020166.4:c.1302T>G	NP_064551.3:p.Ile434Met
NR_120639.1:n.1216T>G
NR_120640.1:n.1969T>G
XM_006713702.1:c.975T>G	XP_006713765.1:p.Ile325Met
XM_011512992.1:c.1188T>G	XP_011511294.1:p.Ile396Met
XM_011512993.1:c.1302T>G	XP_011511295.1:p.Ile434Met
XR_241502.2:n.1449T>G
XR_924159.1:n.1449T>G
NM_001363880.1:c.975T>G	NP_001350809.1:p.Ile325Met
XM_011512992.2:c.1188T>G	XP_011511294.1:p.Ile396Met
XR_001740207.2:n.1425T>G
XR_001740208.2:n.1425T>G
XR_001740209.2:n.1395T>G
XR_001740210.1:n.1255T>G
XR_002959553.1:n.1425T>G
XR_002959554.1:n.1425T>G
XR_241502.3:n.1395T>G
NM_020166.5:c.1302T>G MANE Select	NP_064551.3:p.Ile434Met
NM_001293273.2:c.951T>G	NP_001280202.1:p.Ile317Met
NR_120639.2:n.1125T>G
NR_120640.2:n.1969T>G