Canonical Allele Identifier: CA374970491

Gene: ENG

Linked Data

• MyVariant Identifiers: chr9:g.130578047C>G (hg19) ; chr9:g.127815768C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815768C>G , CM000671.2:g.127815768C>G	GRCh38
NC_000009.11:g.130578047C>G , CM000671.1:g.130578047C>G	GRCh37
NC_000009.10:g.129617868C>G	NCBI36
NG_009551.1:g.44001G>C , LRG_589:g.44001G>C
NG_023245.1:g.17894C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1345G>C	ENSP00000479015.1:p.Ala449Pro
ENST00000373203.9:c.1891G>C MANE Select	ENSP00000362299.4:p.Ala631Pro
ENST00000344849.4:c.*149G>C	ENSP00000341917.3:n.*149G>C
ENST00000373203.8:c.1891G>C	ENSP00000362299.4:p.Ala631Pro
ENST00000480266.5:c.1345G>C	ENSP00000479015.1:p.Ala449Pro
NM_000118.3:c.*149G>C , LRG_589t1:c.*149G>C	NP_000109.1:n.*149G>C
NM_001114753.2:c.1891G>C , LRG_589t2:c.1891G>C	NP_001108225.1:p.Ala631Pro
NM_001278138.1:c.1345G>C	NP_001265067.1:p.Ala449Pro
NM_001114753.3:c.1891G>C MANE Select	NP_001108225.1:p.Ala631Pro
NM_001278138.2:c.1345G>C	NP_001265067.1:p.Ala449Pro