Canonical Allele Identifier: CA374983065

Gene: ENG

Linked Data

• dbSNP Id: rs1323617205
• gnomAD v2: 9-130587521-T-G
• MyVariant Identifiers: chr9:g.130587521T>G (hg19) ; chr9:g.127825242T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825242T>G , CM000671.2:g.127825242T>G	GRCh38
NC_000009.11:g.130587521T>G , CM000671.1:g.130587521T>G	GRCh37
NC_000009.10:g.129627342T>G	NCBI36
NG_009551.1:g.34527A>C , LRG_589:g.34527A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.259A>C	ENSP00000479015.1:p.Met87Leu
ENST00000373203.9:c.805A>C MANE Select	ENSP00000362299.4:p.Met269Leu
ENST00000344849.4:c.805A>C	ENSP00000341917.3:p.Met269Leu
ENST00000373203.8:c.805A>C	ENSP00000362299.4:p.Met269Leu
ENST00000480266.5:c.259A>C	ENSP00000479015.1:p.Met87Leu
NM_000118.3:c.805A>C , LRG_589t1:c.805A>C	NP_000109.1:p.Met269Leu
NM_001114753.2:c.805A>C , LRG_589t2:c.805A>C	NP_001108225.1:p.Met269Leu
NM_001278138.1:c.259A>C	NP_001265067.1:p.Met87Leu
NM_001114753.3:c.805A>C MANE Select	NP_001108225.1:p.Met269Leu
NM_001278138.2:c.259A>C	NP_001265067.1:p.Met87Leu