Canonical Allele Identifier: CA952417
Community Standard Title: NM_000969.5(RPL5):c.257A>G (p.Tyr86Cys)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92834846A>G , CM000663.2:g.92834846A>G GRCh38
NC_000001.10:g.93300403A>G , CM000663.1:g.93300403A>G GRCh37
NC_000001.9:g.93072991A>G NCBI36
NG_011779.1:g.7810A>G
NG_033051.1:g.131677T>C
NG_011779.2:g.7861A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000969.5:c.257A>G (RPL5) MANE Select NP_000960.2:p.Tyr86Cys
ENST00000370321.8:c.257A>G (RPL5) MANE Select ENSP00000359345.2:p.Tyr86Cys
NM_000969.3:c.257A>G (RPL5) NP_000960.2:p.Tyr86Cys
NM_001252273.1:c.475-1812T>C (DIPK1A) NP_001239202.1:n.475-1812T>C
NM_001252273.2:c.475-1812T>C (DIPK1A) NP_001239202.1:n.475-1812T>C
NR_146333.1:n.386A>G (RPL5)
ENST00000315741.5:c.107A>G (RPL5) ENSP00000359338.2:p.Tyr36Cys
ENST00000370321.7:c.257A>G (RPL5) ENSP00000359345.2:p.Tyr86Cys
ENST00000461952.1:n.967A>G (RPL5)
ENST00000470843.5:c.*219A>G (RPL5) ENSP00000473675.1:n.*219A>G
ENST00000615519.4:c.475-1812T>C (DIPK1A) ENSP00000483279.1:n.475-1812T>C
ENST00000645119.1:c.257A>G (RPL5) ENSP00000493811.1:p.Tyr86Cys
ENST00000645300.1:c.107A>G (RPL5) ENSP00000495589.1:p.Tyr36Cys
ENST00000646852.1:n.286A>G (RPL5)