Canonical Allele Identifier: CA355320059

Gene: MCCC1

Linked Data

• dbSNP Id: rs1382740958
• gnomAD v2: 3-182755048-T-C
• gnomAD v4: 3-183037260-T-C
• MyVariant Identifiers: chr3:g.182755048T>C (hg19) ; chr3:g.183037260T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037260T>C , CM000665.2:g.183037260T>C	GRCh38
NC_000003.11:g.182755048T>C , CM000665.1:g.182755048T>C	GRCh37
NC_000003.10:g.184237742T>C	NCBI36
NG_008100.1:g.67318A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1552A>G MANE Select	ENSP00000265594.4:p.Lys518Glu
ENST00000265594.8:c.1552A>G	ENSP00000265594.4:p.Lys518Glu
ENST00000476176.5:c.1411A>G	ENSP00000420433.1:p.Lys471Glu
ENST00000489909.1:n.96A>G
ENST00000492597.5:c.1225A>G	ENSP00000419898.1:p.Lys409Glu
ENST00000495767.5:c.*1133A>G	ENSP00000419658.1:n.*1133A>G
ENST00000497830.5:c.*1149A>G	ENSP00000420088.1:n.*1149A>G
ENST00000497959.5:c.1263+1766A>G	ENSP00000420648.1:n.1263+1766A>G
ENST00000539926.5:c.1102A>G	ENSP00000441253.2:p.Lys368Glu
ENST00000610757.4:c.1102A>G	ENSP00000480435.1:p.Lys368Glu
ENST00000629669.2:c.1263+1766A>G	ENSP00000486824.1:n.1263+1766A>G
NM_001293273.1:c.1201A>G	NP_001280202.1:p.Lys401Glu
NM_020166.4:c.1552A>G	NP_064551.3:p.Lys518Glu
NR_120639.1:n.1466A>G
NR_120640.1:n.2044+1766A>G
XM_006713702.1:c.1225A>G	XP_006713765.1:p.Lys409Glu
XM_011512992.1:c.1438A>G	XP_011511294.1:p.Lys480Glu
XM_011512993.1:c.1377+1766A>G	XP_011511295.1:n.1377+1766A>G
XR_241502.2:n.1524+1766A>G
XR_924159.1:n.1699A>G
NM_001363880.1:c.1225A>G	NP_001350809.1:p.Lys409Glu
XM_011512992.2:c.1438A>G	XP_011511294.1:p.Lys480Glu
XR_001740207.2:n.1675A>G
XR_001740208.2:n.1675A>G
XR_001740209.2:n.1470+1766A>G
XR_001740210.1:n.1505A>G
XR_002959553.1:n.1675A>G
XR_002959554.1:n.1500+1766A>G
XR_241502.3:n.1470+1766A>G
NM_020166.5:c.1552A>G MANE Select	NP_064551.3:p.Lys518Glu
NM_001293273.2:c.1201A>G	NP_001280202.1:p.Lys401Glu
NR_120639.2:n.1375A>G
NR_120640.2:n.2044+1766A>G