Canonical Allele Identifier: CA2718810

Gene: MCCC1

Linked Data

• dbSNP Id: rs747169908
• ExAC: 3:182756857 T / C
• gnomAD v2: 3-182756857-T-C
• gnomAD v4: 3-183039069-T-C
• COSMIC: COSM729685
• MyVariant Identifiers: chr3:g.182756857T>C (hg19) ; chr3:g.183039069T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039069T>C , CM000665.2:g.183039069T>C	GRCh38
NC_000003.11:g.182756857T>C , CM000665.1:g.182756857T>C	GRCh37
NC_000003.10:g.184239551T>C	NCBI36
NG_008100.1:g.65509A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1334A>G MANE Select	ENSP00000265594.4:p.Gln445Arg
ENST00000265594.8:c.1334A>G	ENSP00000265594.4:p.Gln445Arg
ENST00000476176.5:c.1193A>G	ENSP00000420433.1:p.Gln398Arg
ENST00000492597.5:c.1007A>G	ENSP00000419898.1:p.Gln336Arg
ENST00000495767.5:c.*915A>G	ENSP00000419658.1:n.*915A>G
ENST00000497830.5:c.*931A>G	ENSP00000420088.1:n.*931A>G
ENST00000497959.5:c.1220A>G	ENSP00000420648.1:p.Gln407Arg
ENST00000539926.5:c.884A>G	ENSP00000441253.2:p.Gln295Arg
ENST00000610757.4:c.884A>G	ENSP00000480435.1:p.Gln295Arg
ENST00000629669.2:c.1220A>G	ENSP00000486824.1:p.Gln407Arg
NM_001293273.1:c.983A>G	NP_001280202.1:p.Gln328Arg
NM_020166.4:c.1334A>G	NP_064551.3:p.Gln445Arg
NR_120639.1:n.1248A>G
NR_120640.1:n.2001A>G
XM_006713702.1:c.1007A>G	XP_006713765.1:p.Gln336Arg
XM_011512992.1:c.1220A>G	XP_011511294.1:p.Gln407Arg
XM_011512993.1:c.1334A>G	XP_011511295.1:p.Gln445Arg
XR_241502.2:n.1481A>G
XR_924159.1:n.1481A>G
NM_001363880.1:c.1007A>G	NP_001350809.1:p.Gln336Arg
XM_011512992.2:c.1220A>G	XP_011511294.1:p.Gln407Arg
XR_001740207.2:n.1457A>G
XR_001740208.2:n.1457A>G
XR_001740209.2:n.1427A>G
XR_001740210.1:n.1287A>G
XR_002959553.1:n.1457A>G
XR_002959554.1:n.1457A>G
XR_241502.3:n.1427A>G
NM_020166.5:c.1334A>G MANE Select	NP_064551.3:p.Gln445Arg
NM_001293273.2:c.983A>G	NP_001280202.1:p.Gln328Arg
NR_120639.2:n.1157A>G
NR_120640.2:n.2001A>G