Canonical Allele Identifier: CA467231826
Gene: ENG HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.130588922G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127826643G>T , CM000671.2:g.127826643G>T GRCh38
NC_000009.11:g.130588922G>T , CM000671.1:g.130588922G>T GRCh37
NC_000009.10:g.129628743G>T NCBI36
NG_009551.1:g.33126C>A , LRG_589:g.33126C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.-157C>A ENSP00000479015.1:n.-157C>A
ENST00000373203.9:c.390C>A MANE Select ENSP00000362299.4:p.Pro130=
ENST00000344849.4:c.390C>A ENSP00000341917.3:p.Pro130=
ENST00000373203.8:c.390C>A ENSP00000362299.4:p.Pro130=
ENST00000462196.1:n.290C>A
ENST00000480266.5:c.-157C>A ENSP00000479015.1:n.-157C>A
NM_000118.3:c.390C>A , LRG_589t1:c.390C>A NP_000109.1:p.Pro130=
NM_001114753.2:c.390C>A , LRG_589t2:c.390C>A NP_001108225.1:p.Pro130=
NM_001278138.1:c.-157C>A NP_001265067.1:n.-157C>A
XR_001746952.2:n.82+1185G>T
NM_001114753.3:c.390C>A MANE Select NP_001108225.1:p.Pro130=
NM_001278138.2:c.-157C>A NP_001265067.1:n.-157C>A