Canonical Allele Identifier: CA350697709
Gene: SPEG HGNC NCBI
ASIC4-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219483856C>G , CM000664.2:g.219483856C>G GRCh38
NC_000002.11:g.220348578C>G , CM000664.1:g.220348578C>G GRCh37
NC_000002.10:g.220056822C>G NCBI36
NG_051022.1:g.54642C>G

Transcript Alleles

HGVS Amino-acid Change
NM_005876.5:c.6393C>G (SPEG) MANE Select NP_005867.3:p.Phe2131Leu
ENST00000312358.12:c.6393C>G (SPEG) MANE Select ENSP00000311684.7:p.Phe2131Leu
NM_005876.4:c.6393C>G (SPEG) NP_005867.3:p.Phe2131Leu
ENST00000312358.11:c.6393C>G (SPEG) ENSP00000311684.7:p.Phe2131Leu
ENST00000485813.5:n.5636C>G (SPEG)
XM_005246237.2:c.6111C>G (SPEG) XP_005246294.1:p.Phe2037Leu
XM_005246239.2:c.4017C>G (SPEG) XP_005246296.1:p.Phe1339Leu
XM_005246240.2:c.3846C>G (SPEG) XP_005246297.1:p.Phe1282Leu
XM_005246241.1:c.3846C>G (SPEG) XP_005246298.1:p.Phe1282Leu
XM_005246242.3:c.4032C>G (SPEG) XP_005246299.1:p.Phe1344Leu
XM_005246242.4:c.4032C>G (SPEG) XP_005246299.1:p.Phe1344Leu
XM_006712189.2:c.6081C>G (SPEG) XP_006712252.1:p.Phe2027Leu
XM_006712189.3:c.6081C>G (SPEG) XP_006712252.1:p.Phe2027Leu
XM_006712193.2:c.3846C>G (SPEG) XP_006712256.1:p.Phe1282Leu
XM_006712193.3:c.3846C>G (SPEG) XP_006712256.1:p.Phe1282Leu
XM_011510479.1:c.6423C>G (SPEG) XP_011508781.1:p.Phe2141Leu
XM_011510479.2:c.6423C>G (SPEG) XP_011508781.1:p.Phe2141Leu
XM_011510480.1:c.6423C>G (SPEG) XP_011508782.1:p.Phe2141Leu
XM_011510481.1:c.6246C>G (SPEG) XP_011508783.1:p.Phe2082Leu
XM_011510482.1:c.6240C>G (SPEG) XP_011508784.1:p.Phe2080Leu
XM_011510483.1:c.6162C>G (SPEG) XP_011508785.1:p.Phe2054Leu
XM_011510483.2:c.6141C>G (SPEG) XP_011508785.2:p.Phe2047Leu
XM_011510484.1:c.6078C>G (SPEG) XP_011508786.1:p.Phe2026Leu
XM_011510485.1:c.6423C>G (SPEG) XP_011508787.1:p.Phe2141Leu
XM_017003157.1:c.6141C>G (SPEG) XP_016858646.1:p.Phe2047Leu
XM_017003158.2:c.3846C>G (SPEG) XP_016858647.1:p.Phe1282Leu
XM_017003159.2:c.4017C>G (SPEG) XP_016858648.1:p.Phe1339Leu
XM_017003160.1:c.1401C>G (SPEG) XP_016858649.1:p.Phe467Leu
XR_923921.1:n.353-1447G>C (ASIC4-AS1)
XR_923921.2:n.392-1447G>C (ASIC4-AS1)