Canonical Allele Identifier: CA2718816

Gene: MCCC1

Linked Data

• ClinVar Variation Id: 649327
• ClinVar RCV Id: RCV000804238 ; RCV001275507
• dbSNP Id: rs142507365
• ExAC: 3:182756888 C / T
• gnomAD v2: 3-182756888-C-T
• gnomAD v3: 3-183039100-C-T
• gnomAD v4: 3-183039100-C-T
• MyVariant Identifiers: chr3:g.182756888C>T (hg19) ; chr3:g.183039100C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039100C>T , CM000665.2:g.183039100C>T	GRCh38
NC_000003.11:g.182756888C>T , CM000665.1:g.182756888C>T	GRCh37
NC_000003.10:g.184239582C>T	NCBI36
NG_008100.1:g.65478G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1303G>A MANE Select	ENSP00000265594.4:p.Ala435Thr
ENST00000265594.8:c.1303G>A	ENSP00000265594.4:p.Ala435Thr
ENST00000476176.5:c.1162G>A	ENSP00000420433.1:p.Ala388Thr
ENST00000492597.5:c.976G>A	ENSP00000419898.1:p.Ala326Thr
ENST00000495767.5:c.*884G>A	ENSP00000419658.1:n.*884G>A
ENST00000497830.5:c.*900G>A	ENSP00000420088.1:n.*900G>A
ENST00000497959.5:c.1189G>A	ENSP00000420648.1:p.Ala397Thr
ENST00000539926.5:c.853G>A	ENSP00000441253.2:p.Ala285Thr
ENST00000610757.4:c.853G>A	ENSP00000480435.1:p.Ala285Thr
ENST00000629669.2:c.1189G>A	ENSP00000486824.1:p.Ala397Thr
NM_001293273.1:c.952G>A	NP_001280202.1:p.Ala318Thr
NM_020166.4:c.1303G>A	NP_064551.3:p.Ala435Thr
NR_120639.1:n.1217G>A
NR_120640.1:n.1970G>A
XM_006713702.1:c.976G>A	XP_006713765.1:p.Ala326Thr
XM_011512992.1:c.1189G>A	XP_011511294.1:p.Ala397Thr
XM_011512993.1:c.1303G>A	XP_011511295.1:p.Ala435Thr
XR_241502.2:n.1450G>A
XR_924159.1:n.1450G>A
NM_001363880.1:c.976G>A	NP_001350809.1:p.Ala326Thr
XM_011512992.2:c.1189G>A	XP_011511294.1:p.Ala397Thr
XR_001740207.2:n.1426G>A
XR_001740208.2:n.1426G>A
XR_001740209.2:n.1396G>A
XR_001740210.1:n.1256G>A
XR_002959553.1:n.1426G>A
XR_002959554.1:n.1426G>A
XR_241502.3:n.1396G>A
NM_020166.5:c.1303G>A MANE Select	NP_064551.3:p.Ala435Thr
NM_001293273.2:c.952G>A	NP_001280202.1:p.Ala318Thr
NR_120639.2:n.1126G>A
NR_120640.2:n.1970G>A