Canonical Allele Identifier: CA2127580
Gene: SPEG HGNC NCBI
ASIC4-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219489890C>T , CM000664.2:g.219489890C>T GRCh38
NC_000002.11:g.220354612C>T , CM000664.1:g.220354612C>T GRCh37
NC_000002.10:g.220062856C>T NCBI36
NG_051022.1:g.60676C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000312358.12:c.8872C>T (SPEG) MANE Select ENSP00000311684.7:p.Arg2958Ter
ENST00000312358.11:c.8872C>T (SPEG) ENSP00000311684.7:p.Arg2958Ter
ENST00000485813.5:n.8115C>T (SPEG)
NM_005876.4:c.8872C>T (SPEG) NP_005867.3:p.Arg2958Ter
XM_005246237.2:c.8590C>T (SPEG) XP_005246294.1:p.Arg2864Ter
XM_005246239.2:c.6496C>T (SPEG) XP_005246296.1:p.Arg2166Ter
XM_005246240.2:c.6325C>T (SPEG) XP_005246297.1:p.Arg2109Ter
XM_005246241.1:c.6325C>T (SPEG) XP_005246298.1:p.Arg2109Ter
XM_005246242.3:c.6511C>T (SPEG) XP_005246299.1:p.Arg2171Ter
XM_006712189.2:c.8560C>T (SPEG) XP_006712252.1:p.Arg2854Ter
XM_006712193.2:c.6325C>T (SPEG) XP_006712256.1:p.Arg2109Ter
XM_011510479.1:c.8902C>T (SPEG) XP_011508781.1:p.Arg2968Ter
XM_011510480.1:c.8734C>T (SPEG) XP_011508782.1:p.Arg2912Ter
XM_011510481.1:c.8725C>T (SPEG) XP_011508783.1:p.Arg2909Ter
XM_011510482.1:c.8719C>T (SPEG) XP_011508784.1:p.Arg2907Ter
XM_011510483.1:c.8641C>T (SPEG) XP_011508785.1:p.Arg2881Ter
XM_011510484.1:c.8557C>T (SPEG) XP_011508786.1:p.Arg2853Ter
XR_923921.1:n.353-7481G>A (ASIC4-AS1)
XM_005246242.4:c.6511C>T (SPEG) XP_005246299.1:p.Arg2171Ter
XM_006712189.3:c.8560C>T (SPEG) XP_006712252.1:p.Arg2854Ter
XM_006712193.3:c.6325C>T (SPEG) XP_006712256.1:p.Arg2109Ter
XM_011510479.2:c.8902C>T (SPEG) XP_011508781.1:p.Arg2968Ter
XM_011510483.2:c.8620C>T (SPEG) XP_011508785.2:p.Arg2874Ter
XM_017003157.1:c.8620C>T (SPEG) XP_016858646.1:p.Arg2874Ter
XM_017003158.2:c.6325C>T (SPEG) XP_016858647.1:p.Arg2109Ter
XM_017003160.1:c.3880C>T (SPEG) XP_016858649.1:p.Arg1294Ter
XR_923921.2:n.392-7481G>A (ASIC4-AS1)
NM_005876.5:c.8872C>T (SPEG) MANE Select NP_005867.3:p.Arg2958Ter