Canonical Allele Identifier: CA374977100

Gene: ENG

Linked Data

• MyVariant Identifiers: chr9:g.130581038T>A (hg19) ; chr9:g.127818759T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127818759T>A , CM000671.2:g.127818759T>A	GRCh38
NC_000009.11:g.130581038T>A , CM000671.1:g.130581038T>A	GRCh37
NC_000009.10:g.129620859T>A	NCBI36
NG_009551.1:g.41010A>T , LRG_589:g.41010A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.839A>T	ENSP00000479015.1:p.Gln280Leu
ENST00000373203.9:c.1385A>T MANE Select	ENSP00000362299.4:p.Gln462Leu
ENST00000344849.4:c.1385A>T	ENSP00000341917.3:p.Gln462Leu
ENST00000373203.8:c.1385A>T	ENSP00000362299.4:p.Gln462Leu
ENST00000480266.5:c.839A>T	ENSP00000479015.1:p.Gln280Leu
NM_000118.3:c.1385A>T , LRG_589t1:c.1385A>T	NP_000109.1:p.Gln462Leu
NM_001114753.2:c.1385A>T , LRG_589t2:c.1385A>T	NP_001108225.1:p.Gln462Leu
NM_001278138.1:c.839A>T	NP_001265067.1:p.Gln280Leu
NR_136302.1:n.1568+48T>A
NM_001114753.3:c.1385A>T MANE Select	NP_001108225.1:p.Gln462Leu
NM_001278138.2:c.839A>T	NP_001265067.1:p.Gln280Leu