Canonical Allele Identifier: CA350708838
Gene: SPEG HGNC NCBI
ASIC4-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219489206G>T , CM000664.2:g.219489206G>T GRCh38
NC_000002.11:g.220353928G>T , CM000664.1:g.220353928G>T GRCh37
NC_000002.10:g.220062172G>T NCBI36
NG_051022.1:g.59992G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000312358.12:c.8302G>T (SPEG) MANE Select ENSP00000311684.7:p.Val2768Phe
ENST00000312358.11:c.8302G>T (SPEG) ENSP00000311684.7:p.Val2768Phe
ENST00000485813.5:n.7545G>T (SPEG)
NM_005876.4:c.8302G>T (SPEG) NP_005867.3:p.Val2768Phe
XM_005246237.2:c.8020G>T (SPEG) XP_005246294.1:p.Val2674Phe
XM_005246239.2:c.5926G>T (SPEG) XP_005246296.1:p.Val1976Phe
XM_005246240.2:c.5755G>T (SPEG) XP_005246297.1:p.Val1919Phe
XM_005246241.1:c.5755G>T (SPEG) XP_005246298.1:p.Val1919Phe
XM_005246242.3:c.5941G>T (SPEG) XP_005246299.1:p.Val1981Phe
XM_006712189.2:c.7990G>T (SPEG) XP_006712252.1:p.Val2664Phe
XM_006712193.2:c.5755G>T (SPEG) XP_006712256.1:p.Val1919Phe
XM_011510479.1:c.8332G>T (SPEG) XP_011508781.1:p.Val2778Phe
XM_011510480.1:c.8164G>T (SPEG) XP_011508782.1:p.Val2722Phe
XM_011510481.1:c.8155G>T (SPEG) XP_011508783.1:p.Val2719Phe
XM_011510482.1:c.8149G>T (SPEG) XP_011508784.1:p.Val2717Phe
XM_011510483.1:c.8071G>T (SPEG) XP_011508785.1:p.Val2691Phe
XM_011510484.1:c.7987G>T (SPEG) XP_011508786.1:p.Val2663Phe
XR_923921.1:n.353-6797C>A (ASIC4-AS1)
XM_005246242.4:c.5941G>T (SPEG) XP_005246299.1:p.Val1981Phe
XM_006712189.3:c.7990G>T (SPEG) XP_006712252.1:p.Val2664Phe
XM_006712193.3:c.5755G>T (SPEG) XP_006712256.1:p.Val1919Phe
XM_011510479.2:c.8332G>T (SPEG) XP_011508781.1:p.Val2778Phe
XM_011510483.2:c.8050G>T (SPEG) XP_011508785.2:p.Val2684Phe
XM_017003157.1:c.8050G>T (SPEG) XP_016858646.1:p.Val2684Phe
XM_017003158.2:c.5755G>T (SPEG) XP_016858647.1:p.Val1919Phe
XM_017003160.1:c.3310G>T (SPEG) XP_016858649.1:p.Val1104Phe
XR_923921.2:n.392-6797C>A (ASIC4-AS1)
NM_005876.5:c.8302G>T (SPEG) MANE Select NP_005867.3:p.Val2768Phe