Canonical Allele Identifier: CA341243570
Community Standard Title: NM_000969.5(RPL5):c.742C>T (p.Arg248Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92840587C>T , CM000663.2:g.92840587C>T GRCh38
NC_000001.10:g.93306144C>T , CM000663.1:g.93306144C>T GRCh37
NC_000001.9:g.93078732C>T NCBI36
NG_011779.1:g.13551C>T
NG_033051.1:g.125936G>A
NG_011779.2:g.13602C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000969.5:c.742C>T (RPL5) MANE Select NP_000960.2:p.Arg248Ter
ENST00000370321.8:c.742C>T (RPL5) MANE Select ENSP00000359345.2:p.Arg248Ter
NM_000969.3:c.742C>T (RPL5) NP_000960.2:p.Arg248Ter
NM_001252273.1:c.474+6596G>A (DIPK1A) NP_001239202.1:n.474+6596G>A
NM_001252273.2:c.474+6596G>A (DIPK1A) NP_001239202.1:n.474+6596G>A
NR_146333.1:n.801C>T (RPL5)
ENST00000370321.7:c.742C>T (RPL5) ENSP00000359345.2:p.Arg248Ter
ENST00000497519.1:n.1061C>T (RPL5)
ENST00000615519.4:c.474+6596G>A (DIPK1A) ENSP00000483279.1:n.474+6596G>A
ENST00000643510.1:n.258C>T (RPL5)
ENST00000644549.1:n.63C>T (RPL5)
ENST00000645119.1:c.361C>T (RPL5) ENSP00000493811.1:p.Arg121Ter
ENST00000645300.1:c.592C>T (RPL5) ENSP00000495589.1:p.Arg198Ter