Canonical Allele Identifier: CA16610139
Community Standard Title: NM_000969.5(RPL5):c.700G>T (p.Asp234Tyr)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92837628G>T , CM000663.2:g.92837628G>T GRCh38
NC_000001.10:g.93303185G>T , CM000663.1:g.93303185G>T GRCh37
NC_000001.9:g.93075773G>T NCBI36
NG_011779.1:g.10592G>T
NG_033051.1:g.128895C>A
NG_011779.2:g.10643G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000969.5:c.700G>T (RPL5) MANE Select NP_000960.2:p.Asp234Tyr
ENST00000370321.8:c.700G>T (RPL5) MANE Select ENSP00000359345.2:p.Asp234Tyr
NM_000969.3:c.700G>T (RPL5) NP_000960.2:p.Asp234Tyr
NM_001252273.1:c.475-4594C>A (DIPK1A) NP_001239202.1:n.475-4594C>A
NM_001252273.2:c.475-4594C>A (DIPK1A) NP_001239202.1:n.475-4594C>A
NR_146333.1:n.759G>T (RPL5)
ENST00000370321.7:c.700G>T (RPL5) ENSP00000359345.2:p.Asp234Tyr
ENST00000497519.1:n.1019G>T (RPL5)
ENST00000615519.4:c.475-4594C>A (DIPK1A) ENSP00000483279.1:n.475-4594C>A
ENST00000645119.1:c.324+2715G>T (RPL5) ENSP00000493811.1:n.324+2715G>T
ENST00000645300.1:c.550G>T (RPL5) ENSP00000495589.1:p.Asp184Tyr
ENST00000645908.1:n.434G>T (RPL5)