Canonical Allele Identifier: CA374976687

Gene: ENG

Linked Data

• MyVariant Identifiers: chr9:g.130581011T>G (hg19) ; chr9:g.127818732T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127818732T>G , CM000671.2:g.127818732T>G	GRCh38
NC_000009.11:g.130581011T>G , CM000671.1:g.130581011T>G	GRCh37
NC_000009.10:g.129620832T>G	NCBI36
NG_009551.1:g.41037A>C , LRG_589:g.41037A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.866A>C	ENSP00000479015.1:p.Gln289Pro
ENST00000373203.9:c.1412A>C MANE Select	ENSP00000362299.4:p.Gln471Pro
ENST00000344849.4:c.1412A>C	ENSP00000341917.3:p.Gln471Pro
ENST00000373203.8:c.1412A>C	ENSP00000362299.4:p.Gln471Pro
ENST00000480266.5:c.866A>C	ENSP00000479015.1:p.Gln289Pro
NM_000118.3:c.1412A>C , LRG_589t1:c.1412A>C	NP_000109.1:p.Gln471Pro
NM_001114753.2:c.1412A>C , LRG_589t2:c.1412A>C	NP_001108225.1:p.Gln471Pro
NM_001278138.1:c.866A>C	NP_001265067.1:p.Gln289Pro
NR_136302.1:n.1568+21T>G
NM_001114753.3:c.1412A>C MANE Select	NP_001108225.1:p.Gln471Pro
NM_001278138.2:c.866A>C	NP_001265067.1:p.Gln289Pro