Canonical Allele Identifier: CA524696712

Gene: RPL5 DIPK1A

Linked Data

• dbSNP Id: rs1429604977
• gnomAD v2: 1-93303441-C-G
• gnomAD v3: 1-92837884-C-G
• gnomAD v4: 1-92837884-C-G
• MyVariant Identifiers: chr1:g.93303441C>G (hg19) ; chr1:g.92837884C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837884C>G , CM000663.2:g.92837884C>G	GRCh38
NC_000001.10:g.93303441C>G , CM000663.1:g.93303441C>G	GRCh37
NC_000001.9:g.93076029C>G	NCBI36
NG_011779.1:g.10848C>G
NG_033051.1:g.128639G>C
NG_011779.2:g.10899C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.705+251C>G (RPL5) MANE Select	ENSP00000359345.2:n.705+251C>G
ENST00000645119.1:c.325-2667C>G (RPL5)	ENSP00000493811.1:n.325-2667C>G
ENST00000645300.1:c.555+251C>G (RPL5)	ENSP00000495589.1:n.555+251C>G
ENST00000370321.7:c.705+251C>G (RPL5)	ENSP00000359345.2:n.705+251C>G
ENST00000497519.1:n.1024+251C>G (RPL5)
ENST00000615519.4:c.475-4850G>C (DIPK1A)	ENSP00000483279.1:n.475-4850G>C
NM_000969.3:c.705+251C>G (RPL5)	NP_000960.2:n.705+251C>G
NM_001252273.1:c.475-4850G>C (DIPK1A)	NP_001239202.1:n.475-4850G>C
NM_000969.5:c.705+251C>G (RPL5) MANE Select	NP_000960.2:n.705+251C>G
NR_146333.1:n.764+251C>G (RPL5)
NM_001252273.2:c.475-4850G>C (DIPK1A)	NP_001239202.1:n.475-4850G>C