Canonical Allele Identifier: CA350697701
Gene: SPEG HGNC NCBI
ASIC4-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219483854T>C , CM000664.2:g.219483854T>C GRCh38
NC_000002.11:g.220348576T>C , CM000664.1:g.220348576T>C GRCh37
NC_000002.10:g.220056820T>C NCBI36
NG_051022.1:g.54640T>C

Transcript Alleles

HGVS Amino-acid Change
NM_005876.5:c.6391T>C (SPEG) MANE Select NP_005867.3:p.Phe2131Leu
ENST00000312358.12:c.6391T>C (SPEG) MANE Select ENSP00000311684.7:p.Phe2131Leu
NM_005876.4:c.6391T>C (SPEG) NP_005867.3:p.Phe2131Leu
ENST00000312358.11:c.6391T>C (SPEG) ENSP00000311684.7:p.Phe2131Leu
ENST00000485813.5:n.5634T>C (SPEG)
XM_005246237.2:c.6109T>C (SPEG) XP_005246294.1:p.Phe2037Leu
XM_005246239.2:c.4015T>C (SPEG) XP_005246296.1:p.Phe1339Leu
XM_005246240.2:c.3844T>C (SPEG) XP_005246297.1:p.Phe1282Leu
XM_005246241.1:c.3844T>C (SPEG) XP_005246298.1:p.Phe1282Leu
XM_005246242.3:c.4030T>C (SPEG) XP_005246299.1:p.Phe1344Leu
XM_005246242.4:c.4030T>C (SPEG) XP_005246299.1:p.Phe1344Leu
XM_006712189.2:c.6079T>C (SPEG) XP_006712252.1:p.Phe2027Leu
XM_006712189.3:c.6079T>C (SPEG) XP_006712252.1:p.Phe2027Leu
XM_006712193.2:c.3844T>C (SPEG) XP_006712256.1:p.Phe1282Leu
XM_006712193.3:c.3844T>C (SPEG) XP_006712256.1:p.Phe1282Leu
XM_011510479.1:c.6421T>C (SPEG) XP_011508781.1:p.Phe2141Leu
XM_011510479.2:c.6421T>C (SPEG) XP_011508781.1:p.Phe2141Leu
XM_011510480.1:c.6421T>C (SPEG) XP_011508782.1:p.Phe2141Leu
XM_011510481.1:c.6244T>C (SPEG) XP_011508783.1:p.Phe2082Leu
XM_011510482.1:c.6238T>C (SPEG) XP_011508784.1:p.Phe2080Leu
XM_011510483.1:c.6160T>C (SPEG) XP_011508785.1:p.Phe2054Leu
XM_011510483.2:c.6139T>C (SPEG) XP_011508785.2:p.Phe2047Leu
XM_011510484.1:c.6076T>C (SPEG) XP_011508786.1:p.Phe2026Leu
XM_011510485.1:c.6421T>C (SPEG) XP_011508787.1:p.Phe2141Leu
XM_017003157.1:c.6139T>C (SPEG) XP_016858646.1:p.Phe2047Leu
XM_017003158.2:c.3844T>C (SPEG) XP_016858647.1:p.Phe1282Leu
XM_017003159.2:c.4015T>C (SPEG) XP_016858648.1:p.Phe1339Leu
XM_017003160.1:c.1399T>C (SPEG) XP_016858649.1:p.Phe467Leu
XR_923921.1:n.353-1445A>G (ASIC4-AS1)
XR_923921.2:n.392-1445A>G (ASIC4-AS1)