Canonical Allele Identifier: CA341242849

Gene: RPL5 DIPK1A

Linked Data

• MyVariant Identifiers: chr1:g.93303053T>G (hg19) ; chr1:g.92837496T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837496T>G , CM000663.2:g.92837496T>G	GRCh38
NC_000001.10:g.93303053T>G , CM000663.1:g.93303053T>G	GRCh37
NC_000001.9:g.93075641T>G	NCBI36
NG_011779.1:g.10460T>G
NG_033051.1:g.129027A>C
NG_011779.2:g.10511T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.568T>G (RPL5) MANE Select	ENSP00000359345.2:p.Phe190Val
ENST00000645119.1:c.324+2583T>G (RPL5)	ENSP00000493811.1:n.324+2583T>G
ENST00000645300.1:c.418T>G (RPL5)	ENSP00000495589.1:p.Phe140Val
ENST00000645908.1:n.302T>G (RPL5)
ENST00000370321.7:c.568T>G (RPL5)	ENSP00000359345.2:p.Phe190Val
ENST00000497519.1:n.887T>G (RPL5)
ENST00000615519.4:c.475-4462A>C (DIPK1A)	ENSP00000483279.1:n.475-4462A>C
NM_000969.3:c.568T>G (RPL5)	NP_000960.2:p.Phe190Val
NM_001252273.1:c.475-4462A>C (DIPK1A)	NP_001239202.1:n.475-4462A>C
NM_000969.5:c.568T>G (RPL5) MANE Select	NP_000960.2:p.Phe190Val
NR_146333.1:n.627T>G (RPL5)
NM_001252273.2:c.475-4462A>C (DIPK1A)	NP_001239202.1:n.475-4462A>C