Canonical Allele Identifier: CA461551232
Gene: ELOC HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.74858903G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.73946668G>A , CM000670.2:g.73946668G>A GRCh38
NC_000008.10:g.74858903G>A , CM000670.1:g.74858903G>A GRCh37
NC_000008.9:g.75021457G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000519487.6:c.370C>T ENSP00000429596.2:p.Leu124=
ENST00000622804.2:c.301C>T ENSP00000478121.1:p.Leu101=
ENST00000685250.1:n.409C>T
ENST00000685938.1:c.364C>T ENSP00000509885.1:p.Leu122=
ENST00000687224.1:c.301C>T ENSP00000509184.1:p.Leu101=
ENST00000688584.1:c.253C>T ENSP00000509989.1:p.Leu85=
ENST00000692141.1:n.4375C>T
ENST00000520242.6:c.301C>T MANE Select ENSP00000428171.1:p.Leu101=
ENST00000284811.12:c.301C>T ENSP00000284811.8:p.Leu101=
ENST00000518127.5:c.301C>T ENSP00000428334.1:p.Leu101=
ENST00000519487.5:c.301C>T ENSP00000429596.1:p.Leu101=
ENST00000520210.1:c.253C>T ENSP00000430224.1:p.Leu85=
ENST00000520242.5:c.301C>T ENSP00000428171.1:p.Leu101=
ENST00000522337.5:c.301C>T ENSP00000429906.1:p.Leu101=
ENST00000523815.5:c.301C>T ENSP00000428074.1:p.Leu101=
ENST00000602840.5:c.149-5063C>T ENSP00000473408.1:n.149-5063C>T
ENST00000622804.1:c.301C>T ENSP00000478121.1:p.Leu101=
NM_001204857.1:c.301C>T NP_001191786.1:p.Leu101=
NM_001204858.1:c.301C>T NP_001191787.1:p.Leu101=
NM_001204859.1:c.301C>T NP_001191788.1:p.Leu101=
NM_001204860.1:c.301C>T NP_001191789.1:p.Leu101=
NM_001204861.1:c.301C>T NP_001191790.1:p.Leu101=
NM_001204862.1:c.301C>T NP_001191791.1:p.Leu101=
NM_001204863.1:c.253C>T NP_001191792.1:p.Leu85=
NM_001204864.1:c.253C>T NP_001191793.1:p.Leu85=
NM_005648.3:c.301C>T NP_005639.1:p.Leu101=
XM_011517580.1:c.301C>T XP_011515882.1:p.Leu101=
XM_011517581.1:c.301C>T XP_011515883.1:p.Leu101=
XM_011517580.2:c.301C>T XP_011515882.1:p.Leu101=
XM_011517581.2:c.301C>T XP_011515883.1:p.Leu101=
NM_001204858.2:c.301C>T NP_001191787.1:p.Leu101=
NM_001204859.2:c.301C>T NP_001191788.1:p.Leu101=
NM_001204863.2:c.253C>T NP_001191792.1:p.Leu85=
NM_005648.4:c.301C>T MANE Select NP_005639.1:p.Leu101=
NM_001204857.2:c.301C>T NP_001191786.1:p.Leu101=
NM_001204860.2:c.301C>T NP_001191789.1:p.Leu101=
NM_001204861.2:c.301C>T NP_001191790.1:p.Leu101=
NM_001204862.2:c.301C>T NP_001191791.1:p.Leu101=
NM_001204864.2:c.253C>T NP_001191793.1:p.Leu85=