Canonical Allele Identifier: CA431431361
Community Standard Title: NM_005876.5(SPEG):c.8212C>T (p.Leu2738=)
Gene: SPEG HGNC NCBI
ASIC4-AS1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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