Canonical Allele Identifier: CA467230830

Gene: ENG

Linked Data

• COSMIC: COSM6472936 ; COSM6472937
• MyVariant Identifiers: chr9:g.130586679G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824400G>T , CM000671.2:g.127824400G>T	GRCh38
NC_000009.11:g.130586679G>T , CM000671.1:g.130586679G>T	GRCh37
NC_000009.10:g.129626500G>T	NCBI36
NG_009551.1:g.35369C>A , LRG_589:g.35369C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.492C>A	ENSP00000479015.1:p.Pro164=
ENST00000373203.9:c.1038C>A MANE Select	ENSP00000362299.4:p.Pro346=
ENST00000344849.4:c.1038C>A	ENSP00000341917.3:p.Pro346=
ENST00000373203.8:c.1038C>A	ENSP00000362299.4:p.Pro346=
ENST00000480266.5:c.492C>A	ENSP00000479015.1:p.Pro164=
ENST00000486329.1:n.6C>A
NM_000118.3:c.1038C>A , LRG_589t1:c.1038C>A	NP_000109.1:p.Pro346=
NM_001114753.2:c.1038C>A , LRG_589t2:c.1038C>A	NP_001108225.1:p.Pro346=
NM_001278138.1:c.492C>A	NP_001265067.1:p.Pro164=
NM_001114753.3:c.1038C>A MANE Select	NP_001108225.1:p.Pro346=
NM_001278138.2:c.492C>A	NP_001265067.1:p.Pro164=