Canonical Allele Identifier: CA5252631

Gene: ENG

Linked Data

• dbSNP Id: rs748191815
• ExAC: 9:130578308 A / G
• gnomAD v2: 9-130578308-A-G
• gnomAD v4: 9-127816029-A-G
• MyVariant Identifiers: chr9:g.130578308A>G (hg19) ; chr9:g.127816029A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127816029A>G , CM000671.2:g.127816029A>G	GRCh38
NC_000009.11:g.130578308A>G , CM000671.1:g.130578308A>G	GRCh37
NC_000009.10:g.129618129A>G	NCBI36
NG_009551.1:g.43740T>C , LRG_589:g.43740T>C
NG_023245.1:g.18155A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.1220T>C	ENSP00000479015.1:p.Leu407Pro
ENST00000373203.9:c.1766T>C MANE Select	ENSP00000362299.4:p.Leu589Pro
ENST00000344849.4:c.1766T>C	ENSP00000341917.3:p.Leu589Pro
ENST00000373203.8:c.1766T>C	ENSP00000362299.4:p.Leu589Pro
ENST00000480266.5:c.1220T>C	ENSP00000479015.1:p.Leu407Pro
NM_000118.3:c.1766T>C , LRG_589t1:c.1766T>C	NP_000109.1:p.Leu589Pro
NM_001114753.2:c.1766T>C , LRG_589t2:c.1766T>C	NP_001108225.1:p.Leu589Pro
NM_001278138.1:c.1220T>C	NP_001265067.1:p.Leu407Pro
NM_001114753.3:c.1766T>C MANE Select	NP_001108225.1:p.Leu589Pro
NM_001278138.2:c.1220T>C	NP_001265067.1:p.Leu407Pro