Canonical Allele Identifier: CA2127562
Gene: SPEG HGNC NCBI
ASIC4-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219489820G>A , CM000664.2:g.219489820G>A GRCh38
NC_000002.11:g.220354542G>A , CM000664.1:g.220354542G>A GRCh37
NC_000002.10:g.220062786G>A NCBI36
NG_051022.1:g.60606G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000312358.12:c.8802G>A (SPEG) MANE Select ENSP00000311684.7:p.Pro2934=
ENST00000312358.11:c.8802G>A (SPEG) ENSP00000311684.7:p.Pro2934=
ENST00000485813.5:n.8045G>A (SPEG)
NM_005876.4:c.8802G>A (SPEG) NP_005867.3:p.Pro2934=
XM_005246237.2:c.8520G>A (SPEG) XP_005246294.1:p.Pro2840=
XM_005246239.2:c.6426G>A (SPEG) XP_005246296.1:p.Pro2142=
XM_005246240.2:c.6255G>A (SPEG) XP_005246297.1:p.Pro2085=
XM_005246241.1:c.6255G>A (SPEG) XP_005246298.1:p.Pro2085=
XM_005246242.3:c.6441G>A (SPEG) XP_005246299.1:p.Pro2147=
XM_006712189.2:c.8490G>A (SPEG) XP_006712252.1:p.Pro2830=
XM_006712193.2:c.6255G>A (SPEG) XP_006712256.1:p.Pro2085=
XM_011510479.1:c.8832G>A (SPEG) XP_011508781.1:p.Pro2944=
XM_011510480.1:c.8664G>A (SPEG) XP_011508782.1:p.Pro2888=
XM_011510481.1:c.8655G>A (SPEG) XP_011508783.1:p.Pro2885=
XM_011510482.1:c.8649G>A (SPEG) XP_011508784.1:p.Pro2883=
XM_011510483.1:c.8571G>A (SPEG) XP_011508785.1:p.Pro2857=
XM_011510484.1:c.8487G>A (SPEG) XP_011508786.1:p.Pro2829=
XR_923921.1:n.353-7411C>T (ASIC4-AS1)
XM_005246242.4:c.6441G>A (SPEG) XP_005246299.1:p.Pro2147=
XM_006712189.3:c.8490G>A (SPEG) XP_006712252.1:p.Pro2830=
XM_006712193.3:c.6255G>A (SPEG) XP_006712256.1:p.Pro2085=
XM_011510479.2:c.8832G>A (SPEG) XP_011508781.1:p.Pro2944=
XM_011510483.2:c.8550G>A (SPEG) XP_011508785.2:p.Pro2850=
XM_017003157.1:c.8550G>A (SPEG) XP_016858646.1:p.Pro2850=
XM_017003158.2:c.6255G>A (SPEG) XP_016858647.1:p.Pro2085=
XM_017003160.1:c.3810G>A (SPEG) XP_016858649.1:p.Pro1270=
XR_923921.2:n.392-7411C>T (ASIC4-AS1)
NM_005876.5:c.8802G>A (SPEG) MANE Select NP_005867.3:p.Pro2934=