Canonical Allele Identifier: CA371548602
Gene: ELOC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.73946758A>G , CM000670.2:g.73946758A>G GRCh38
NC_000008.10:g.74858993A>G , CM000670.1:g.74858993A>G GRCh37
NC_000008.9:g.75021547A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000519487.6:c.280T>C ENSP00000429596.2:p.Ser94Pro
ENST00000622804.2:c.211T>C ENSP00000478121.1:p.Ser71Pro
ENST00000685250.1:n.319T>C
ENST00000685938.1:c.274T>C ENSP00000509885.1:p.Ser92Pro
ENST00000687224.1:c.211T>C ENSP00000509184.1:p.Ser71Pro
ENST00000688584.1:c.163T>C ENSP00000509989.1:p.Ser55Pro
ENST00000692141.1:n.4285T>C
ENST00000520242.6:c.211T>C MANE Select ENSP00000428171.1:p.Ser71Pro
ENST00000284811.12:c.211T>C ENSP00000284811.8:p.Ser71Pro
ENST00000518127.5:c.211T>C ENSP00000428334.1:p.Ser71Pro
ENST00000519082.5:c.211T>C ENSP00000429789.1:p.Ser71Pro
ENST00000519487.5:c.211T>C ENSP00000429596.1:p.Ser71Pro
ENST00000520210.1:c.163T>C ENSP00000430224.1:p.Ser55Pro
ENST00000520242.5:c.211T>C ENSP00000428171.1:p.Ser71Pro
ENST00000522337.5:c.211T>C ENSP00000429906.1:p.Ser71Pro
ENST00000523815.5:c.211T>C ENSP00000428074.1:p.Ser71Pro
ENST00000602840.5:c.149-5153T>C ENSP00000473408.1:n.149-5153T>C
ENST00000622804.1:c.211T>C ENSP00000478121.1:p.Ser71Pro
NM_001204857.1:c.211T>C NP_001191786.1:p.Ser71Pro
NM_001204858.1:c.211T>C NP_001191787.1:p.Ser71Pro
NM_001204859.1:c.211T>C NP_001191788.1:p.Ser71Pro
NM_001204860.1:c.211T>C NP_001191789.1:p.Ser71Pro
NM_001204861.1:c.211T>C NP_001191790.1:p.Ser71Pro
NM_001204862.1:c.211T>C NP_001191791.1:p.Ser71Pro
NM_001204863.1:c.163T>C NP_001191792.1:p.Ser55Pro
NM_001204864.1:c.163T>C NP_001191793.1:p.Ser55Pro
NM_005648.3:c.211T>C NP_005639.1:p.Ser71Pro
XM_011517580.1:c.211T>C XP_011515882.1:p.Ser71Pro
XM_011517581.1:c.211T>C XP_011515883.1:p.Ser71Pro
XM_011517580.2:c.211T>C XP_011515882.1:p.Ser71Pro
XM_011517581.2:c.211T>C XP_011515883.1:p.Ser71Pro
NM_001204858.2:c.211T>C NP_001191787.1:p.Ser71Pro
NM_001204859.2:c.211T>C NP_001191788.1:p.Ser71Pro
NM_001204863.2:c.163T>C NP_001191792.1:p.Ser55Pro
NM_005648.4:c.211T>C MANE Select NP_005639.1:p.Ser71Pro
NM_001204857.2:c.211T>C NP_001191786.1:p.Ser71Pro
NM_001204860.2:c.211T>C NP_001191789.1:p.Ser71Pro
NM_001204861.2:c.211T>C NP_001191790.1:p.Ser71Pro
NM_001204862.2:c.211T>C NP_001191791.1:p.Ser71Pro
NM_001204864.2:c.163T>C NP_001191793.1:p.Ser55Pro