Canonical Allele Identifier: CA355319965

Gene: MCCC1

Linked Data

• gnomAD v4: 3-183037247-A-T
• COSMIC: COSM1178649
• MyVariant Identifiers: chr3:g.182755035A>T (hg19) ; chr3:g.183037247A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037247A>T , CM000665.2:g.183037247A>T	GRCh38
NC_000003.11:g.182755035A>T , CM000665.1:g.182755035A>T	GRCh37
NC_000003.10:g.184237729A>T	NCBI36
NG_008100.1:g.67331T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1565T>A MANE Select	ENSP00000265594.4:p.Met522Lys
ENST00000265594.8:c.1565T>A	ENSP00000265594.4:p.Met522Lys
ENST00000476176.5:c.1424T>A	ENSP00000420433.1:p.Met475Lys
ENST00000489909.1:n.109T>A
ENST00000492597.5:c.1238T>A	ENSP00000419898.1:p.Met413Lys
ENST00000495767.5:c.*1146T>A	ENSP00000419658.1:n.*1146T>A
ENST00000497830.5:c.*1162T>A	ENSP00000420088.1:n.*1162T>A
ENST00000497959.5:c.1263+1779T>A	ENSP00000420648.1:n.1263+1779T>A
ENST00000539926.5:c.1115T>A	ENSP00000441253.2:p.Met372Lys
ENST00000610757.4:c.1115T>A	ENSP00000480435.1:p.Met372Lys
ENST00000629669.2:c.1263+1779T>A	ENSP00000486824.1:n.1263+1779T>A
NM_001293273.1:c.1214T>A	NP_001280202.1:p.Met405Lys
NM_020166.4:c.1565T>A	NP_064551.3:p.Met522Lys
NR_120639.1:n.1479T>A
NR_120640.1:n.2044+1779T>A
XM_006713702.1:c.1238T>A	XP_006713765.1:p.Met413Lys
XM_011512992.1:c.1451T>A	XP_011511294.1:p.Met484Lys
XM_011512993.1:c.1377+1779T>A	XP_011511295.1:n.1377+1779T>A
XR_241502.2:n.1524+1779T>A
XR_924159.1:n.1712T>A
NM_001363880.1:c.1238T>A	NP_001350809.1:p.Met413Lys
XM_011512992.2:c.1451T>A	XP_011511294.1:p.Met484Lys
XR_001740207.2:n.1688T>A
XR_001740208.2:n.1688T>A
XR_001740209.2:n.1470+1779T>A
XR_001740210.1:n.1518T>A
XR_002959553.1:n.1688T>A
XR_002959554.1:n.1500+1779T>A
XR_241502.3:n.1470+1779T>A
NM_020166.5:c.1565T>A MANE Select	NP_064551.3:p.Met522Lys
NM_001293273.2:c.1214T>A	NP_001280202.1:p.Met405Lys
NR_120639.2:n.1388T>A
NR_120640.2:n.2044+1779T>A