Canonical Allele Identifier: CA2718655

Gene: MCCC1

Linked Data

• ClinVar Variation Id: 261207
• ClinVar RCV Id: RCV000249040 ; RCV000653489
• dbSNP Id: rs569721834
• ExAC: 3:182740302 C / T
• gnomAD v2: 3-182740302-C-T
• gnomAD v3: 3-183022514-C-T
• gnomAD v4: 3-183022514-C-T
• MyVariant Identifiers: chr3:g.182740302C>T (hg19) ; chr3:g.183022514C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183022514C>T , CM000665.2:g.183022514C>T	GRCh38
NC_000003.11:g.182740302C>T , CM000665.1:g.182740302C>T	GRCh37
NC_000003.10:g.184222996C>T	NCBI36
NG_008100.1:g.82064G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1772G>A MANE Select	ENSP00000265594.4:p.Ser591Asn
ENST00000265594.8:c.1772G>A	ENSP00000265594.4:p.Ser591Asn
ENST00000464601.5:n.204G>A
ENST00000476176.5:c.1631G>A	ENSP00000420433.1:p.Ser544Asn
ENST00000489909.1:n.413G>A
ENST00000492597.5:c.1445G>A	ENSP00000419898.1:p.Ser482Asn
ENST00000495767.5:c.*1303G>A	ENSP00000419658.1:n.*1303G>A
ENST00000497830.5:c.*1369G>A	ENSP00000420088.1:n.*1369G>A
ENST00000497959.5:c.*233G>A	ENSP00000420648.1:n.*233G>A
ENST00000539926.5:c.1322G>A	ENSP00000441253.2:p.Ser441Asn
ENST00000610757.4:c.1322G>A	ENSP00000480435.1:p.Ser441Asn
ENST00000629669.2:c.*136G>A	ENSP00000486824.1:n.*136G>A
NM_001293273.1:c.1421G>A	NP_001280202.1:p.Ser474Asn
NM_020166.4:c.1772G>A	NP_064551.3:p.Ser591Asn
NR_120639.1:n.1636G>A
NR_120640.1:n.2319G>A
XM_006713702.1:c.1445G>A	XP_006713765.1:p.Ser482Asn
XM_011512992.1:c.1658G>A	XP_011511294.1:p.Ser553Asn
XR_241502.2:n.1702G>A
XR_924159.1:n.2016G>A
NM_001363880.1:c.1445G>A	NP_001350809.1:p.Ser482Asn
XM_011512992.2:c.1658G>A	XP_011511294.1:p.Ser553Asn
XR_001740207.2:n.1992G>A
XR_001740208.2:n.1845G>A
XR_001740209.2:n.1598G>A
XR_001740210.1:n.1675G>A
XR_241502.3:n.1648G>A
NM_020166.5:c.1772G>A MANE Select	NP_064551.3:p.Ser591Asn
NM_001293273.2:c.1421G>A	NP_001280202.1:p.Ser474Asn
NR_120639.2:n.1545G>A
NR_120640.2:n.2319G>A