Canonical Allele Identifier: CA26758689

Gene: RPL5 DIPK1A

Linked Data

• dbSNP Id: rs193286679
• gnomAD v2: 1-93301670-G-T
• gnomAD v3: 1-92836113-G-T
• gnomAD v4: 1-92836113-G-T
• MyVariant Identifiers: chr1:g.93301670G>T (hg19) ; chr1:g.92836113G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92836113G>T , CM000663.2:g.92836113G>T	GRCh38
NC_000001.10:g.93301670G>T , CM000663.1:g.93301670G>T	GRCh37
NC_000001.9:g.93074258G>T	NCBI36
NG_011779.1:g.9077G>T
NG_033051.1:g.130410C>A
NG_011779.2:g.9128G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370321.8:c.325-77G>T (RPL5) MANE Select	ENSP00000359345.2:n.325-77G>T
ENST00000645119.1:c.324+1200G>T (RPL5)	ENSP00000493811.1:n.324+1200G>T
ENST00000645300.1:c.175-77G>T (RPL5)	ENSP00000495589.1:n.175-77G>T
ENST00000645908.1:n.59-77G>T (RPL5)
ENST00000315741.5:c.175-77G>T (RPL5)	ENSP00000359338.2:n.175-77G>T
ENST00000370321.7:c.325-77G>T (RPL5)	ENSP00000359345.2:n.325-77G>T
ENST00000461952.1:n.1035-77G>T (RPL5)
ENST00000470843.5:c.*287-77G>T (RPL5)	ENSP00000473675.1:n.*287-77G>T
ENST00000615519.4:c.475-3079C>A (DIPK1A)	ENSP00000483279.1:n.475-3079C>A
NM_000969.3:c.325-77G>T (RPL5)	NP_000960.2:n.325-77G>T
NM_001252273.1:c.475-3079C>A (DIPK1A)	NP_001239202.1:n.475-3079C>A
NM_000969.5:c.325-77G>T (RPL5) MANE Select	NP_000960.2:n.325-77G>T
NR_146333.1:n.421-114G>T (RPL5)
NM_001252273.2:c.475-3079C>A (DIPK1A)	NP_001239202.1:n.475-3079C>A