Canonical Allele Identifier: CA952534

Gene: RPL5 DIPK1A

Linked Data

• ClinVar Variation Id: 939763
• ClinVar RCV Id: RCV001209210
• dbSNP Id: rs767163981
• ExAC: 1:93303151 G / C
• gnomAD v2: 1-93303151-G-C
• gnomAD v4: 1-92837594-G-C
• MyVariant Identifiers: chr1:g.93303151G>C (hg19) ; chr1:g.92837594G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837594G>C , CM000663.2:g.92837594G>C	GRCh38
NC_000001.10:g.93303151G>C , CM000663.1:g.93303151G>C	GRCh37
NC_000001.9:g.93075739G>C	NCBI36
NG_011779.1:g.10558G>C
NG_033051.1:g.128929C>G
NG_011779.2:g.10609G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.666G>C (RPL5) MANE Select	ENSP00000359345.2:p.Gln222His
ENST00000645119.1:c.324+2681G>C (RPL5)	ENSP00000493811.1:n.324+2681G>C
ENST00000645300.1:c.516G>C (RPL5)	ENSP00000495589.1:p.Gln172His
ENST00000645908.1:n.400G>C (RPL5)
ENST00000370321.7:c.666G>C (RPL5)	ENSP00000359345.2:p.Gln222His
ENST00000497519.1:n.985G>C (RPL5)
ENST00000615519.4:c.475-4560C>G (DIPK1A)	ENSP00000483279.1:n.475-4560C>G
NM_000969.3:c.666G>C (RPL5)	NP_000960.2:p.Gln222His
NM_001252273.1:c.475-4560C>G (DIPK1A)	NP_001239202.1:n.475-4560C>G
NM_000969.5:c.666G>C (RPL5) MANE Select	NP_000960.2:p.Gln222His
NR_146333.1:n.725G>C (RPL5)
NM_001252273.2:c.475-4560C>G (DIPK1A)	NP_001239202.1:n.475-4560C>G