Canonical Allele Identifier: CA16040251

Gene: MYC

Linked Data

• dbSNP Id: rs1294281543
• gnomAD v4: 8-127738438-C-A
• COSMIC: COSM5424188 ; COSM5424189
• MyVariant Identifiers: chr8:g.128750684C>A (hg19) ; chr8:g.127738438C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127738438C>A , CM000670.2:g.127738438C>A	GRCh38
NC_000008.10:g.128750684C>A , CM000670.1:g.128750684C>A	GRCh37
NC_000008.9:g.128819866C>A	NCBI36
NG_007161.1:g.7369C>A
NG_007161.2:g.8005C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707113.1:c.176C>A	ENSP00000516742.1:p.Pro59Gln
ENST00000707114.1:c.176C>A	ENSP00000516743.1:p.Pro59Gln
ENST00000707115.1:c.176C>A	ENSP00000516744.1:p.Pro59Gln
ENST00000707116.1:c.176C>A	ENSP00000516745.1:p.Pro59Gln
ENST00000517291.2:c.218C>A	ENSP00000429441.2:p.Pro73Gln
ENST00000524013.2:c.218C>A	ENSP00000430235.2:p.Pro73Gln
ENST00000621592.8:c.221C>A MANE Select	ENSP00000478887.2:p.Pro74Gln
ENST00000651626.1:c.-125C>A	ENSP00000499182.1:n.-125C>A
ENST00000652288.1:c.176C>A	ENSP00000499105.1:p.Pro59Gln
ENST00000259523.10:c.176C>A	ENSP00000259523.6:p.Pro59Gln
ENST00000377970.6:c.176C>A	ENSP00000367207.3:p.Pro59Gln
ENST00000517291.1:c.218C>A	ENSP00000429441.1:p.Pro73Gln
ENST00000520751.1:c.142C>A	ENSP00000430226.1:p.Arg48Ser
ENST00000524013.1:c.218C>A	ENSP00000430235.1:p.Pro73Gln
ENST00000613283.1:c.221C>A	ENSP00000479618.1:p.Pro74Gln
ENST00000621592.5:c.221C>A	ENSP00000478887.1:p.Pro74Gln
NM_002467.4:c.221C>A	NP_002458.2:p.Pro74Gln
NM_001354870.1:c.218C>A	NP_001341799.1:p.Pro73Gln
NM_002467.5:c.221C>A	NP_002458.2:p.Pro74Gln
NM_002467.6:c.221C>A MANE Select	NP_002458.2:p.Pro74Gln