Canonical Allele Identifier: CA374980663

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824318T>C , CM000671.2:g.127824318T>C	GRCh38
NC_000009.11:g.130586597T>C , CM000671.1:g.130586597T>C	GRCh37
NC_000009.10:g.129626418T>C	NCBI36
NG_009551.1:g.35451A>G , LRG_589:g.35451A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001114753.3:c.1120A>G MANE Select	NP_001108225.1:p.Lys374Glu
ENST00000373203.9:c.1120A>G MANE Select	ENSP00000362299.4:p.Lys374Glu
NM_000118.3:c.1120A>G , LRG_589t1:c.1120A>G	NP_000109.1:p.Lys374Glu
NM_001114753.2:c.1120A>G , LRG_589t2:c.1120A>G	NP_001108225.1:p.Lys374Glu
NM_001278138.1:c.574A>G	NP_001265067.1:p.Lys192Glu
NM_001278138.2:c.574A>G	NP_001265067.1:p.Lys192Glu
ENST00000344849.4:c.1120A>G	ENSP00000341917.3:p.Lys374Glu
ENST00000373203.8:c.1120A>G	ENSP00000362299.4:p.Lys374Glu
ENST00000480266.5:c.574A>G	ENSP00000479015.1:p.Lys192Glu
ENST00000480266.6:c.574A>G	ENSP00000479015.1:p.Lys192Glu
ENST00000486329.1:n.88A>G