Canonical Allele Identifier: CA4875250

Gene: MYC

Linked Data

• ClinVar Variation Id: 376458
• ClinVar RCV Id: RCV000420006 ; RCV000426528 ; RCV000437207 ; RCV000438328 ; RCV000445053
• dbSNP Id: rs750664148
• ExAC: 8:128750680 A / C
• gnomAD v2: 8-128750680-A-C
• gnomAD v3: 8-127738434-A-C
• gnomAD v4: 8-127738434-A-C
• MyVariant Identifiers: chr8:g.128750680A>C (hg19) ; chr8:g.127738434A>C (hg38)
• PubMed: PMID:26619011

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127738434A>C , CM000670.2:g.127738434A>C	GRCh38
NC_000008.10:g.128750680A>C , CM000670.1:g.128750680A>C	GRCh37
NC_000008.9:g.128819862A>C	NCBI36
NG_007161.1:g.7365A>C
NG_007161.2:g.8001A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707113.1:c.172A>C	ENSP00000516742.1:p.Thr58Pro
ENST00000707114.1:c.172A>C	ENSP00000516743.1:p.Thr58Pro
ENST00000707115.1:c.172A>C	ENSP00000516744.1:p.Thr58Pro
ENST00000707116.1:c.172A>C	ENSP00000516745.1:p.Thr58Pro
ENST00000517291.2:c.214A>C	ENSP00000429441.2:p.Thr72Pro
ENST00000524013.2:c.214A>C	ENSP00000430235.2:p.Thr72Pro
ENST00000621592.8:c.217A>C MANE Select	ENSP00000478887.2:p.Thr73Pro
ENST00000651626.1:c.-129A>C	ENSP00000499182.1:n.-129A>C
ENST00000652288.1:c.172A>C	ENSP00000499105.1:p.Thr58Pro
ENST00000259523.10:c.172A>C	ENSP00000259523.6:p.Thr58Pro
ENST00000377970.6:c.172A>C	ENSP00000367207.3:p.Thr58Pro
ENST00000517291.1:c.214A>C	ENSP00000429441.1:p.Thr72Pro
ENST00000520751.1:c.138A>C	ENSP00000430226.1:p.Pro46=
ENST00000524013.1:c.214A>C	ENSP00000430235.1:p.Thr72Pro
ENST00000613283.1:c.217A>C	ENSP00000479618.1:p.Thr73Pro
ENST00000621592.5:c.217A>C	ENSP00000478887.1:p.Thr73Pro
NM_002467.4:c.217A>C	NP_002458.2:p.Thr73Pro
NM_001354870.1:c.214A>C	NP_001341799.1:p.Thr72Pro
NM_002467.5:c.217A>C	NP_002458.2:p.Thr73Pro
NM_002467.6:c.217A>C MANE Select	NP_002458.2:p.Thr73Pro