Canonical Allele Identifier: CA1329242204
Gene: SPEG HGNC NCBI
ASIC4-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219489116C= , CM000664.2:g.219489116C= GRCh38
NC_000002.11:g.220353838C= , CM000664.1:g.220353838C= GRCh37
NC_000002.10:g.220062082C= NCBI36
NG_051022.1:g.59902C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000312358.12:c.8212C= (SPEG) MANE Select ENSP00000311684.7:p.Leu2738=
ENST00000312358.11:c.8212C= (SPEG) ENSP00000311684.7:p.Leu2738=
ENST00000485813.5:n.7455C= (SPEG)
NM_005876.4:c.8212C= (SPEG) NP_005867.3:p.Leu2738=
XM_005246237.2:c.7930C= (SPEG) XP_005246294.1:p.Leu2644=
XM_005246239.2:c.5836C= (SPEG) XP_005246296.1:p.Leu1946=
XM_005246240.2:c.5665C= (SPEG) XP_005246297.1:p.Leu1889=
XM_005246241.1:c.5665C= (SPEG) XP_005246298.1:p.Leu1889=
XM_005246242.3:c.5851C= (SPEG) XP_005246299.1:p.Leu1951=
XM_006712189.2:c.7900C= (SPEG) XP_006712252.1:p.Leu2634=
XM_006712193.2:c.5665C= (SPEG) XP_006712256.1:p.Leu1889=
XM_011510479.1:c.8242C= (SPEG) XP_011508781.1:p.Leu2748=
XM_011510480.1:c.8074C= (SPEG) XP_011508782.1:p.Leu2692=
XM_011510481.1:c.8065C= (SPEG) XP_011508783.1:p.Leu2689=
XM_011510482.1:c.8059C= (SPEG) XP_011508784.1:p.Leu2687=
XM_011510483.1:c.7981C= (SPEG) XP_011508785.1:p.Leu2661=
XM_011510484.1:c.7897C= (SPEG) XP_011508786.1:p.Leu2633=
XR_923921.1:n.353-6707G= (ASIC4-AS1)
XM_005246242.4:c.5851C= (SPEG) XP_005246299.1:p.Leu1951=
XM_006712189.3:c.7900C= (SPEG) XP_006712252.1:p.Leu2634=
XM_006712193.3:c.5665C= (SPEG) XP_006712256.1:p.Leu1889=
XM_011510479.2:c.8242C= (SPEG) XP_011508781.1:p.Leu2748=
XM_011510483.2:c.7960C= (SPEG) XP_011508785.2:p.Leu2654=
XM_017003157.1:c.7960C= (SPEG) XP_016858646.1:p.Leu2654=
XM_017003158.2:c.5665C= (SPEG) XP_016858647.1:p.Leu1889=
XM_017003160.1:c.3220C= (SPEG) XP_016858649.1:p.Leu1074=
XR_923921.2:n.392-6707G= (ASIC4-AS1)
NM_005876.5:c.8212C= (SPEG) MANE Select NP_005867.3:p.Leu2738=