Canonical Allele Identifier: CA341242911

Gene: RPL5 DIPK1A

Linked Data

• MyVariant Identifiers: chr1:g.93303081T>A (hg19) ; chr1:g.92837524T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837524T>A , CM000663.2:g.92837524T>A	GRCh38
NC_000001.10:g.93303081T>A , CM000663.1:g.93303081T>A	GRCh37
NC_000001.9:g.93075669T>A	NCBI36
NG_011779.1:g.10488T>A
NG_033051.1:g.128999A>T
NG_011779.2:g.10539T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.596T>A (RPL5) MANE Select	ENSP00000359345.2:p.Ile199Asn
ENST00000645119.1:c.324+2611T>A (RPL5)	ENSP00000493811.1:n.324+2611T>A
ENST00000645300.1:c.446T>A (RPL5)	ENSP00000495589.1:p.Ile149Asn
ENST00000645908.1:n.330T>A (RPL5)
ENST00000370321.7:c.596T>A (RPL5)	ENSP00000359345.2:p.Ile199Asn
ENST00000497519.1:n.915T>A (RPL5)
ENST00000615519.4:c.475-4490A>T (DIPK1A)	ENSP00000483279.1:n.475-4490A>T
NM_000969.3:c.596T>A (RPL5)	NP_000960.2:p.Ile199Asn
NM_001252273.1:c.475-4490A>T (DIPK1A)	NP_001239202.1:n.475-4490A>T
NM_000969.5:c.596T>A (RPL5) MANE Select	NP_000960.2:p.Ile199Asn
NR_146333.1:n.655T>A (RPL5)
NM_001252273.2:c.475-4490A>T (DIPK1A)	NP_001239202.1:n.475-4490A>T