Canonical Allele Identifier: CA16610155

Linked Data

ClinVar Variation Id: 411871
ClinVar RCV Id: RCV000466439
dbSNP Id: rs1060503527

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92833603C>G , CM000663.2:g.92833603C>G GRCh38
NC_000001.10:g.93299160C>G , CM000663.1:g.93299160C>G GRCh37
NC_000001.9:g.93071748C>G NCBI36
NG_011779.1:g.6567C>G
NG_033051.1:g.132920G>C
NG_011779.2:g.6618C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370321.8:c.132C>G (RPL5) MANE Select ENSP00000359345.2:p.Tyr44Ter
ENST00000645119.1:c.132C>G (RPL5) ENSP00000493811.1:p.Tyr44Ter
ENST00000645300.1:c.-19C>G (RPL5) ENSP00000495589.1:n.-19C>G
ENST00000646852.1:n.161C>G (RPL5)
ENST00000315741.5:c.-19C>G (RPL5) ENSP00000359338.2:n.-19C>G
ENST00000370321.7:c.132C>G (RPL5) ENSP00000359345.2:p.Tyr44Ter
ENST00000461952.1:n.842C>G (RPL5)
ENST00000470843.5:c.132C>G (RPL5) ENSP00000473675.1:p.Tyr44Ter
ENST00000615519.4:c.475-569G>C (DIPK1A) ENSP00000483279.1:n.475-569G>C
NM_000969.3:c.132C>G (RPL5) NP_000960.2:p.Tyr44Ter
NM_001252273.1:c.475-569G>C (DIPK1A) NP_001239202.1:n.475-569G>C
NM_000969.5:c.132C>G (RPL5) MANE Select NP_000960.2:p.Tyr44Ter
NR_146333.1:n.261C>G (RPL5)
NM_001252273.2:c.475-569G>C (DIPK1A) NP_001239202.1:n.475-569G>C