Canonical Allele Identifier: CA5252837

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127819909G>C , CM000671.2:g.127819909G>C	GRCh38
NC_000009.11:g.130582188G>C , CM000671.1:g.130582188G>C	GRCh37
NC_000009.10:g.129622009G>C	NCBI36
NG_009551.1:g.39860C>G , LRG_589:g.39860C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001114753.3:c.1263C>G MANE Select	NP_001108225.1:p.Ile421Met
ENST00000373203.9:c.1263C>G MANE Select	ENSP00000362299.4:p.Ile421Met
NM_000118.3:c.1263C>G , LRG_589t1:c.1263C>G	NP_000109.1:p.Ile421Met
NM_001114753.2:c.1263C>G , LRG_589t2:c.1263C>G	NP_001108225.1:p.Ile421Met
NM_001278138.1:c.717C>G	NP_001265067.1:p.Ile239Met
NM_001278138.2:c.717C>G	NP_001265067.1:p.Ile239Met
NR_136302.1:n.1568+1198G>C
ENST00000344849.4:c.1263C>G	ENSP00000341917.3:p.Ile421Met
ENST00000373203.8:c.1263C>G	ENSP00000362299.4:p.Ile421Met
ENST00000480266.5:c.717C>G	ENSP00000479015.1:p.Ile239Met
ENST00000480266.6:c.717C>G	ENSP00000479015.1:p.Ile239Met
ENST00000486329.1:n.231C>G