Canonical Allele Identifier: CA374983528

Gene: ENG

Linked Data

• ClinVar Variation Id: 435060
• ClinVar RCV Id: RCV000500817 ; RCV000633131 ; RCV001565138 ; RCV002367686 ; RCV004551628
• dbSNP Id: rs1554810378
• MyVariant Identifiers: chr9:g.130588001A>G (hg19) ; chr9:g.127825722A>G (hg38)
• ERepo: CA374983528/MONDO:0008535/136

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825722A>G , CM000671.2:g.127825722A>G	GRCh38
NC_000009.11:g.130588001A>G , CM000671.1:g.130588001A>G	GRCh37
NC_000009.10:g.129627822A>G	NCBI36
NG_009551.1:g.34047T>C , LRG_589:g.34047T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.116T>C	ENSP00000479015.1:p.Leu39Pro
ENST00000373203.9:c.662T>C MANE Select	ENSP00000362299.4:p.Leu221Pro
ENST00000344849.4:c.662T>C	ENSP00000341917.3:p.Leu221Pro
ENST00000373203.8:c.662T>C	ENSP00000362299.4:p.Leu221Pro
ENST00000480266.5:c.116T>C	ENSP00000479015.1:p.Leu39Pro
NM_000118.3:c.662T>C , LRG_589t1:c.662T>C	NP_000109.1:p.Leu221Pro
NM_001114753.2:c.662T>C , LRG_589t2:c.662T>C	NP_001108225.1:p.Leu221Pro
NM_001278138.1:c.116T>C	NP_001265067.1:p.Leu39Pro
XR_001746952.2:n.82+264A>G
NM_001114753.3:c.662T>C MANE Select	NP_001108225.1:p.Leu221Pro
NM_001278138.2:c.116T>C	NP_001265067.1:p.Leu39Pro