Canonical Allele Identifier: CA2127187
Community Standard Title: NM_005876.5(SPEG):c.7170C>T (p.Arg2390=)
Gene: SPEG HGNC NCBI
ASIC4-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219484633C>T , CM000664.2:g.219484633C>T GRCh38
NC_000002.11:g.220349355C>T , CM000664.1:g.220349355C>T GRCh37
NC_000002.10:g.220057599C>T NCBI36
NG_051022.1:g.55419C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005876.5:c.7170C>T (SPEG) MANE Select NP_005867.3:p.Arg2390=
ENST00000312358.12:c.7170C>T (SPEG) MANE Select ENSP00000311684.7:p.Arg2390=
NM_005876.4:c.7170C>T (SPEG) NP_005867.3:p.Arg2390=
ENST00000312358.11:c.7170C>T (SPEG) ENSP00000311684.7:p.Arg2390=
ENST00000485813.5:n.6413C>T (SPEG)
XM_005246237.2:c.6888C>T (SPEG) XP_005246294.1:p.Arg2296=
XM_005246239.2:c.4794C>T (SPEG) XP_005246296.1:p.Arg1598=
XM_005246240.2:c.4623C>T (SPEG) XP_005246297.1:p.Arg1541=
XM_005246241.1:c.4623C>T (SPEG) XP_005246298.1:p.Arg1541=
XM_005246242.3:c.4809C>T (SPEG) XP_005246299.1:p.Arg1603=
XM_005246242.4:c.4809C>T (SPEG) XP_005246299.1:p.Arg1603=
XM_006712189.2:c.6858C>T (SPEG) XP_006712252.1:p.Arg2286=
XM_006712189.3:c.6858C>T (SPEG) XP_006712252.1:p.Arg2286=
XM_006712193.2:c.4623C>T (SPEG) XP_006712256.1:p.Arg1541=
XM_006712193.3:c.4623C>T (SPEG) XP_006712256.1:p.Arg1541=
XM_011510479.1:c.7200C>T (SPEG) XP_011508781.1:p.Arg2400=
XM_011510479.2:c.7200C>T (SPEG) XP_011508781.1:p.Arg2400=
XM_011510480.1:c.7200C>T (SPEG) XP_011508782.1:p.Arg2400=
XM_011510481.1:c.7023C>T (SPEG) XP_011508783.1:p.Arg2341=
XM_011510482.1:c.7017C>T (SPEG) XP_011508784.1:p.Arg2339=
XM_011510483.1:c.6939C>T (SPEG) XP_011508785.1:p.Arg2313=
XM_011510483.2:c.6918C>T (SPEG) XP_011508785.2:p.Arg2306=
XM_011510484.1:c.6855C>T (SPEG) XP_011508786.1:p.Arg2285=
XM_011510485.1:c.7200C>T (SPEG) XP_011508787.1:p.Arg2400=
XM_017003157.1:c.6918C>T (SPEG) XP_016858646.1:p.Arg2306=
XM_017003158.2:c.4623C>T (SPEG) XP_016858647.1:p.Arg1541=
XM_017003159.2:c.4794C>T (SPEG) XP_016858648.1:p.Arg1598=
XM_017003160.1:c.2178C>T (SPEG) XP_016858649.1:p.Arg726=
XR_923921.1:n.353-2224G>A (ASIC4-AS1)
XR_923921.2:n.392-2224G>A (ASIC4-AS1)