Canonical Allele Identifier: CA341242164
Community Standard Title: NM_000969.5(RPL5):c.412C>T (p.Gln138Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92836277C>T , CM000663.2:g.92836277C>T GRCh38
NC_000001.10:g.93301834C>T , CM000663.1:g.93301834C>T GRCh37
NC_000001.9:g.93074422C>T NCBI36
NG_011779.1:g.9241C>T
NG_033051.1:g.130246G>A
NG_011779.2:g.9292C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000969.5:c.412C>T (RPL5) MANE Select NP_000960.2:p.Gln138Ter
ENST00000370321.8:c.412C>T (RPL5) MANE Select ENSP00000359345.2:p.Gln138Ter
NM_000969.3:c.412C>T (RPL5) NP_000960.2:p.Gln138Ter
NM_001252273.1:c.475-3243G>A (DIPK1A) NP_001239202.1:n.475-3243G>A
NM_001252273.2:c.475-3243G>A (DIPK1A) NP_001239202.1:n.475-3243G>A
NR_146333.1:n.471C>T (RPL5)
ENST00000315741.5:c.262C>T (RPL5) ENSP00000359338.2:p.Gln88Ter
ENST00000370321.7:c.412C>T (RPL5) ENSP00000359345.2:p.Gln138Ter
ENST00000470843.5:c.*374C>T (RPL5) ENSP00000473675.1:n.*374C>T
ENST00000615519.4:c.475-3243G>A (DIPK1A) ENSP00000483279.1:n.475-3243G>A
ENST00000645119.1:c.324+1364C>T (RPL5) ENSP00000493811.1:n.324+1364C>T
ENST00000645300.1:c.262C>T (RPL5) ENSP00000495589.1:p.Gln88Ter
ENST00000645908.1:n.146C>T (RPL5)