Canonical Allele Identifier: CA437092552

Gene: MCCC1

Linked Data

• ClinVar Variation Id: 1082263
• ClinVar RCV Id: RCV001398536
• dbSNP Id: rs565662458
• gnomAD v2: 3-182755183-G-A
• gnomAD v4: 3-183037395-G-A
• MyVariant Identifiers: chr3:g.182755183G>A (hg19) ; chr3:g.183037395G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037395G>A , CM000665.2:g.183037395G>A	GRCh38
NC_000003.11:g.182755183G>A , CM000665.1:g.182755183G>A	GRCh37
NC_000003.10:g.184237877G>A	NCBI36
NG_008100.1:g.67183C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1417C>T MANE Select	ENSP00000265594.4:p.Leu473=
ENST00000265594.8:c.1417C>T	ENSP00000265594.4:p.Leu473=
ENST00000476176.5:c.1276C>T	ENSP00000420433.1:p.Leu426=
ENST00000492597.5:c.1090C>T	ENSP00000419898.1:p.Leu364=
ENST00000495767.5:c.*998C>T	ENSP00000419658.1:n.*998C>T
ENST00000497830.5:c.*1014C>T	ENSP00000420088.1:n.*1014C>T
ENST00000497959.5:c.1263+1631C>T	ENSP00000420648.1:n.1263+1631C>T
ENST00000539926.5:c.967C>T	ENSP00000441253.2:p.Leu323=
ENST00000610757.4:c.967C>T	ENSP00000480435.1:p.Leu323=
ENST00000629669.2:c.1263+1631C>T	ENSP00000486824.1:n.1263+1631C>T
NM_001293273.1:c.1066C>T	NP_001280202.1:p.Leu356=
NM_020166.4:c.1417C>T	NP_064551.3:p.Leu473=
NR_120639.1:n.1331C>T
NR_120640.1:n.2044+1631C>T
XM_006713702.1:c.1090C>T	XP_006713765.1:p.Leu364=
XM_011512992.1:c.1303C>T	XP_011511294.1:p.Leu435=
XM_011512993.1:c.1377+1631C>T	XP_011511295.1:n.1377+1631C>T
XR_241502.2:n.1524+1631C>T
XR_924159.1:n.1564C>T
NM_001363880.1:c.1090C>T	NP_001350809.1:p.Leu364=
XM_011512992.2:c.1303C>T	XP_011511294.1:p.Leu435=
XR_001740207.2:n.1540C>T
XR_001740208.2:n.1540C>T
XR_001740209.2:n.1470+1631C>T
XR_001740210.1:n.1370C>T
XR_002959553.1:n.1540C>T
XR_002959554.1:n.1500+1631C>T
XR_241502.3:n.1470+1631C>T
NM_020166.5:c.1417C>T MANE Select	NP_064551.3:p.Leu473=
NM_001293273.2:c.1066C>T	NP_001280202.1:p.Leu356=
NR_120639.2:n.1240C>T
NR_120640.2:n.2044+1631C>T