Canonical Allele Identifier: CA418789327

Gene: RPL5 DIPK1A

Linked Data

• gnomAD v4: 1-92837498-T-C
• MyVariant Identifiers: chr1:g.93303055T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837498T>C , CM000663.2:g.92837498T>C	GRCh38
NC_000001.10:g.93303055T>C , CM000663.1:g.93303055T>C	GRCh37
NC_000001.9:g.93075643T>C	NCBI36
NG_011779.1:g.10462T>C
NG_033051.1:g.129025A>G
NG_011779.2:g.10513T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.570T>C (RPL5) MANE Select	ENSP00000359345.2:p.Phe190=
ENST00000645119.1:c.324+2585T>C (RPL5)	ENSP00000493811.1:n.324+2585T>C
ENST00000645300.1:c.420T>C (RPL5)	ENSP00000495589.1:p.Phe140=
ENST00000645908.1:n.304T>C (RPL5)
ENST00000370321.7:c.570T>C (RPL5)	ENSP00000359345.2:p.Phe190=
ENST00000497519.1:n.889T>C (RPL5)
ENST00000615519.4:c.475-4464A>G (DIPK1A)	ENSP00000483279.1:n.475-4464A>G
NM_000969.3:c.570T>C (RPL5)	NP_000960.2:p.Phe190=
NM_001252273.1:c.475-4464A>G (DIPK1A)	NP_001239202.1:n.475-4464A>G
NM_000969.5:c.570T>C (RPL5) MANE Select	NP_000960.2:p.Phe190=
NR_146333.1:n.629T>C (RPL5)
NM_001252273.2:c.475-4464A>G (DIPK1A)	NP_001239202.1:n.475-4464A>G