Canonical Allele Identifier: CA374973659

Gene: ENG

Linked Data

• MyVariant Identifiers: chr9:g.130579464A>T (hg19) ; chr9:g.127817185A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127817185A>T , CM000671.2:g.127817185A>T	GRCh38
NC_000009.11:g.130579464A>T , CM000671.1:g.130579464A>T	GRCh37
NC_000009.10:g.129619285A>T	NCBI36
NG_009551.1:g.42584T>A , LRG_589:g.42584T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1159T>A	ENSP00000479015.1:p.Phe387Ile
ENST00000373203.9:c.1705T>A MANE Select	ENSP00000362299.4:p.Phe569Ile
ENST00000344849.4:c.1705T>A	ENSP00000341917.3:p.Phe569Ile
ENST00000373203.8:c.1705T>A	ENSP00000362299.4:p.Phe569Ile
ENST00000480266.5:c.1159T>A	ENSP00000479015.1:p.Phe387Ile
NM_000118.3:c.1705T>A , LRG_589t1:c.1705T>A	NP_000109.1:p.Phe569Ile
NM_001114753.2:c.1705T>A , LRG_589t2:c.1705T>A	NP_001108225.1:p.Phe569Ile
NM_001278138.1:c.1159T>A	NP_001265067.1:p.Phe387Ile
NR_136302.1:n.1120A>T
NM_001114753.3:c.1705T>A MANE Select	NP_001108225.1:p.Phe569Ile
NM_001278138.2:c.1159T>A	NP_001265067.1:p.Phe387Ile