Canonical Allele Identifier: CA5324781
Community Standard Title: NM_002571.4(PAEP):c.128C>T (p.Ala43Val)
Gene: PAEP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.135562325C>T , CM000671.2:g.135562325C>T GRCh38
NC_000009.11:g.138454171C>T , CM000671.1:g.138454171C>T GRCh37
NC_000009.10:g.137593992C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_002571.4:c.128C>T MANE Select NP_002562.2:p.Ala43Val
ENST00000479141.6:c.128C>T MANE Select ENSP00000417898.1:p.Ala43Val
NM_001018048.1:c.97-35C>T NP_001018058.1:n.97-35C>T
NM_001018048.2:c.97-35C>T NP_001018058.1:n.97-35C>T
NM_001018049.1:c.128C>T NP_001018059.1:p.Ala43Val
NM_001018049.2:c.128C>T NP_001018059.1:p.Ala43Val
NM_001018049.3:c.128C>T NP_001018059.1:p.Ala43Val
NM_002571.2:c.128C>T NP_002562.2:p.Ala43Val
NM_002571.3:c.128C>T NP_002562.2:p.Ala43Val
ENST00000277508.9:c.128C>T ENSP00000277508.5:p.Ala43Val
ENST00000371766.6:c.128C>T ENSP00000360831.1:p.Ala43Val
ENST00000371768.7:c.128C>T ENSP00000431712.1:p.Ala43Val
ENST00000433563.5:c.53-35C>T
ENST00000479141.5:c.128C>T ENSP00000417898.1:p.Ala43Val
ENST00000611414.4:c.128C>T ENSP00000484659.1:p.Ala43Val
XM_011518745.1:c.128C>T XP_011517047.1:p.Ala43Val
XM_011518745.2:c.128C>T XP_011517047.1:p.Ala43Val
XM_011518746.1:c.128C>T XP_011517048.1:p.Ala43Val
XM_011518746.2:c.128C>T XP_011517048.1:p.Ala43Val
XM_011518747.1:c.128C>T XP_011517049.1:p.Ala43Val
XM_011518747.2:c.128C>T XP_011517049.1:p.Ala43Val
XM_011518748.1:c.97-35C>T XP_011517050.1:n.97-35C>T
XM_011518749.1:c.128C>T XP_011517051.1:p.Ala43Val
XM_011518749.2:c.128C>T XP_011517051.1:p.Ala43Val
XM_011518750.1:c.11C>T XP_011517052.1:p.Ala4Val
XM_011518751.1:c.97-35C>T XP_011517053.1:n.97-35C>T
XM_011518752.1:c.128C>T XP_011517054.1:p.Ala43Val
XM_011518752.2:c.128C>T XP_011517054.1:p.Ala43Val
XM_017014782.2:c.96+428C>T XP_016870271.1:n.96+428C>T
XM_017014783.2:c.128C>T XP_016870272.1:p.Ala43Val