Canonical Allele Identifier: CA26759883

Gene: RPL5 DIPK1A

Linked Data

• dbSNP Id: rs562730320
• gnomAD v2: 1-93303419-T-C
• gnomAD v3: 1-92837862-T-C
• gnomAD v4: 1-92837862-T-C
• MyVariant Identifiers: chr1:g.93303419T>C (hg19) ; chr1:g.92837862T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837862T>C , CM000663.2:g.92837862T>C	GRCh38
NC_000001.10:g.93303419T>C , CM000663.1:g.93303419T>C	GRCh37
NC_000001.9:g.93076007T>C	NCBI36
NG_011779.1:g.10826T>C
NG_033051.1:g.128661A>G
NG_011779.2:g.10877T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.705+229T>C (RPL5) MANE Select	ENSP00000359345.2:n.705+229T>C
ENST00000645119.1:c.325-2689T>C (RPL5)	ENSP00000493811.1:n.325-2689T>C
ENST00000645300.1:c.555+229T>C (RPL5)	ENSP00000495589.1:n.555+229T>C
ENST00000370321.7:c.705+229T>C (RPL5)	ENSP00000359345.2:n.705+229T>C
ENST00000497519.1:n.1024+229T>C (RPL5)
ENST00000615519.4:c.475-4828A>G (DIPK1A)	ENSP00000483279.1:n.475-4828A>G
NM_000969.3:c.705+229T>C (RPL5)	NP_000960.2:n.705+229T>C
NM_001252273.1:c.475-4828A>G (DIPK1A)	NP_001239202.1:n.475-4828A>G
NM_000969.5:c.705+229T>C (RPL5) MANE Select	NP_000960.2:n.705+229T>C
NR_146333.1:n.764+229T>C (RPL5)
NM_001252273.2:c.475-4828A>G (DIPK1A)	NP_001239202.1:n.475-4828A>G