Canonical Allele Identifier: CA15069067

Gene: RPL5 DIPK1A

Linked Data

• dbSNP Id: rs6659942
• gnomAD v2: 1-93303451-G-T
• gnomAD v3: 1-92837894-G-T
• gnomAD v4: 1-92837894-G-T
• MyVariant Identifiers: chr1:g.93303451G>T (hg19) ; chr1:g.92837894G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837894G>T , CM000663.2:g.92837894G>T	GRCh38
NC_000001.10:g.93303451G>T , CM000663.1:g.93303451G>T	GRCh37
NC_000001.9:g.93076039G>T	NCBI36
NG_011779.1:g.10858G>T
NG_033051.1:g.128629C>A
NG_011779.2:g.10909G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.705+261G>T (RPL5) MANE Select	ENSP00000359345.2:n.705+261G>T
ENST00000645119.1:c.325-2657G>T (RPL5)	ENSP00000493811.1:n.325-2657G>T
ENST00000645300.1:c.555+261G>T (RPL5)	ENSP00000495589.1:n.555+261G>T
ENST00000370321.7:c.705+261G>T (RPL5)	ENSP00000359345.2:n.705+261G>T
ENST00000497519.1:n.1024+261G>T (RPL5)
ENST00000615519.4:c.475-4860C>A (DIPK1A)	ENSP00000483279.1:n.475-4860C>A
NM_000969.3:c.705+261G>T (RPL5)	NP_000960.2:n.705+261G>T
NM_001252273.1:c.475-4860C>A (DIPK1A)	NP_001239202.1:n.475-4860C>A
NM_000969.5:c.705+261G>T (RPL5) MANE Select	NP_000960.2:n.705+261G>T
NR_146333.1:n.764+261G>T (RPL5)
NM_001252273.2:c.475-4860C>A (DIPK1A)	NP_001239202.1:n.475-4860C>A