Canonical Allele Identifier: CA374976077

Gene: ENG

Linked Data

• MyVariant Identifiers: chr9:g.130580638C>G (hg19) ; chr9:g.127818359C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127818359C>G , CM000671.2:g.127818359C>G	GRCh38
NC_000009.11:g.130580638C>G , CM000671.1:g.130580638C>G	GRCh37
NC_000009.10:g.129620459C>G	NCBI36
NG_009551.1:g.41410G>C , LRG_589:g.41410G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.901G>C	ENSP00000479015.1:p.Val301Leu
ENST00000373203.9:c.1447G>C MANE Select	ENSP00000362299.4:p.Val483Leu
ENST00000344849.4:c.1447G>C	ENSP00000341917.3:p.Val483Leu
ENST00000373203.8:c.1447G>C	ENSP00000362299.4:p.Val483Leu
ENST00000480266.5:c.901G>C	ENSP00000479015.1:p.Val301Leu
NM_000118.3:c.1447G>C , LRG_589t1:c.1447G>C	NP_000109.1:p.Val483Leu
NM_001114753.2:c.1447G>C , LRG_589t2:c.1447G>C	NP_001108225.1:p.Val483Leu
NM_001278138.1:c.901G>C	NP_001265067.1:p.Val301Leu
NR_136302.1:n.1426C>G
NM_001114753.3:c.1447G>C MANE Select	NP_001108225.1:p.Val483Leu
NM_001278138.2:c.901G>C	NP_001265067.1:p.Val301Leu