Canonical Allele Identifier: CA467231674
Gene: ENG HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.130588826C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127826547C>G , CM000671.2:g.127826547C>G GRCh38
NC_000009.11:g.130588826C>G , CM000671.1:g.130588826C>G GRCh37
NC_000009.10:g.129628647C>G NCBI36
NG_009551.1:g.33222G>C , LRG_589:g.33222G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000480266.6:c.-61G>C ENSP00000479015.1:n.-61G>C
ENST00000373203.9:c.486G>C MANE Select ENSP00000362299.4:p.Leu162=
ENST00000344849.4:c.486G>C ENSP00000341917.3:p.Leu162=
ENST00000373203.8:c.486G>C ENSP00000362299.4:p.Leu162=
ENST00000462196.1:n.386G>C
ENST00000480266.5:c.-61G>C ENSP00000479015.1:n.-61G>C
NM_000118.3:c.486G>C , LRG_589t1:c.486G>C NP_000109.1:p.Leu162=
NM_001114753.2:c.486G>C , LRG_589t2:c.486G>C NP_001108225.1:p.Leu162=
NM_001278138.1:c.-61G>C NP_001265067.1:n.-61G>C
XR_001746952.2:n.82+1089C>G
NM_001114753.3:c.486G>C MANE Select NP_001108225.1:p.Leu162=
NM_001278138.2:c.-61G>C NP_001265067.1:n.-61G>C