Canonical Allele Identifier: CA344222682
Gene: RNPEP HGNC NCBI
ELF3-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.202001468C>G , CM000663.2:g.202001468C>G GRCh38
NC_000001.10:g.201970596C>G , CM000663.1:g.201970596C>G GRCh37
NC_000001.9:g.200237219C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000295640.9:c.1297C>G (RNPEP) MANE Select ENSP00000295640.4:p.Gln433Glu
ENST00000295640.8:c.1297C>G (RNPEP) ENSP00000295640.4:p.Gln433Glu
ENST00000367286.7:c.1180C>G (RNPEP) ENSP00000356255.3:p.Gln394Glu
ENST00000447312.5:c.904C>G (RNPEP) ENSP00000389602.1:p.Gln302Glu
ENST00000449524.1:c.421C>G (RNPEP) ENSP00000407614.1:p.Gln141Glu
ENST00000464707.1:n.208C>G (RNPEP)
ENST00000471105.5:n.1006C>G (RNPEP)
ENST00000478617.5:n.756C>G (RNPEP)
ENST00000492587.5:c.760C>G (RNPEP)
ENST00000492849.5:n.747C>G (RNPEP)
NM_020216.3:c.1297C>G (RNPEP) NP_064601.3:p.Gln433Glu
XM_005245418.2:c.904C>G (RNPEP) XP_005245475.1:p.Gln302Glu
XM_005245419.1:c.685C>G (RNPEP) XP_005245476.1:p.Gln229Glu
XM_005245420.1:c.427C>G (RNPEP) XP_005245477.1:p.Gln143Glu
XM_005245421.1:c.427C>G (RNPEP) XP_005245478.1:p.Gln143Glu
XM_011509856.1:c.427C>G (RNPEP) XP_011508158.1:p.Gln143Glu
XR_426886.2:n.248-1141G>C (ELF3-AS1)
NM_001319182.1:c.904C>G (RNPEP) NP_001306111.1:p.Gln302Glu
NM_001319183.1:c.427C>G (RNPEP) NP_001306112.1:p.Gln143Glu
NM_001319184.1:c.427C>G (RNPEP) NP_001306113.1:p.Gln143Glu
NR_146472.1:n.555-1141G>C (ELF3-AS1)
XM_017002022.1:c.427C>G (RNPEP) XP_016857511.1:p.Gln143Glu
NM_020216.4:c.1297C>G (RNPEP) MANE Select NP_064601.3:p.Gln433Glu
NM_001319182.2:c.904C>G (RNPEP) NP_001306111.1:p.Gln302Glu
NM_001319183.2:c.427C>G (RNPEP) NP_001306112.1:p.Gln143Glu
NM_001319184.2:c.427C>G (RNPEP) NP_001306113.1:p.Gln143Glu