Canonical Allele Identifier: CA374972053

Gene: ENG

Linked Data

• MyVariant Identifiers: chr9:g.130578279C>G (hg19) ; chr9:g.127816000C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127816000C>G , CM000671.2:g.127816000C>G	GRCh38
NC_000009.11:g.130578279C>G , CM000671.1:g.130578279C>G	GRCh37
NC_000009.10:g.129618100C>G	NCBI36
NG_009551.1:g.43769G>C , LRG_589:g.43769G>C
NG_023245.1:g.18126C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1249G>C	ENSP00000479015.1:p.Ala417Pro
ENST00000373203.9:c.1795G>C MANE Select	ENSP00000362299.4:p.Ala599Pro
ENST00000344849.4:c.1795G>C	ENSP00000341917.3:p.Ala599Pro
ENST00000373203.8:c.1795G>C	ENSP00000362299.4:p.Ala599Pro
ENST00000480266.5:c.1249G>C	ENSP00000479015.1:p.Ala417Pro
NM_000118.3:c.1795G>C , LRG_589t1:c.1795G>C	NP_000109.1:p.Ala599Pro
NM_001114753.2:c.1795G>C , LRG_589t2:c.1795G>C	NP_001108225.1:p.Ala599Pro
NM_001278138.1:c.1249G>C	NP_001265067.1:p.Ala417Pro
NM_001114753.3:c.1795G>C MANE Select	NP_001108225.1:p.Ala599Pro
NM_001278138.2:c.1249G>C	NP_001265067.1:p.Ala417Pro