Canonical Allele Identifier: CA341242966

Gene: RPL5 DIPK1A

Linked Data

• dbSNP Id: rs746120360
• gnomAD v2: 1-93303104-T-G
• MyVariant Identifiers: chr1:g.93303104T>G (hg19) ; chr1:g.92837547T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837547T>G , CM000663.2:g.92837547T>G	GRCh38
NC_000001.10:g.93303104T>G , CM000663.1:g.93303104T>G	GRCh37
NC_000001.9:g.93075692T>G	NCBI36
NG_011779.1:g.10511T>G
NG_033051.1:g.128976A>C
NG_011779.2:g.10562T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.619T>G (RPL5) MANE Select	ENSP00000359345.2:p.Tyr207Asp
ENST00000645119.1:c.324+2634T>G (RPL5)	ENSP00000493811.1:n.324+2634T>G
ENST00000645300.1:c.469T>G (RPL5)	ENSP00000495589.1:p.Tyr157Asp
ENST00000645908.1:n.353T>G (RPL5)
ENST00000370321.7:c.619T>G (RPL5)	ENSP00000359345.2:p.Tyr207Asp
ENST00000497519.1:n.938T>G (RPL5)
ENST00000615519.4:c.475-4513A>C (DIPK1A)	ENSP00000483279.1:n.475-4513A>C
NM_000969.3:c.619T>G (RPL5)	NP_000960.2:p.Tyr207Asp
NM_001252273.1:c.475-4513A>C (DIPK1A)	NP_001239202.1:n.475-4513A>C
NM_000969.5:c.619T>G (RPL5) MANE Select	NP_000960.2:p.Tyr207Asp
NR_146333.1:n.678T>G (RPL5)
NM_001252273.2:c.475-4513A>C (DIPK1A)	NP_001239202.1:n.475-4513A>C