Canonical Allele Identifier: CA341240783

Gene: RPL5 DIPK1A

Linked Data

• dbSNP Id: rs1198185864
• gnomAD v4: 1-92833456-G-A
• MyVariant Identifiers: chr1:g.93299013G>A (hg19) ; chr1:g.92833456G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92833456G>A , CM000663.2:g.92833456G>A	GRCh38
NC_000001.10:g.93299013G>A , CM000663.1:g.93299013G>A	GRCh37
NC_000001.9:g.93071601G>A	NCBI36
NG_011779.1:g.6420G>A
NG_033051.1:g.133067C>T
NG_011779.2:g.6471G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370321.8:c.71G>A (RPL5) MANE Select	ENSP00000359345.2:p.Arg24Gln
ENST00000645119.1:c.71G>A (RPL5)	ENSP00000493811.1:p.Arg24Gln
ENST00000645300.1:c.-77-89G>A (RPL5)	ENSP00000495589.1:n.-77-89G>A
ENST00000646852.1:n.100G>A (RPL5)
ENST00000315741.5:c.-80G>A (RPL5)	ENSP00000359338.2:n.-80G>A
ENST00000370321.7:c.71G>A (RPL5)	ENSP00000359345.2:p.Arg24Gln
ENST00000461952.1:n.695G>A (RPL5)
ENST00000470843.5:c.71G>A (RPL5)	ENSP00000473675.1:p.Arg24Gln
ENST00000615519.4:c.475-422C>T (DIPK1A)	ENSP00000483279.1:n.475-422C>T
NM_000969.3:c.71G>A (RPL5)	NP_000960.2:p.Arg24Gln
NM_001252273.1:c.475-422C>T (DIPK1A)	NP_001239202.1:n.475-422C>T
NM_000969.5:c.71G>A (RPL5) MANE Select	NP_000960.2:p.Arg24Gln
NR_146333.1:n.200G>A (RPL5)
NM_001252273.2:c.475-422C>T (DIPK1A)	NP_001239202.1:n.475-422C>T