Canonical Allele Identifier: CA341242796

Gene: RPL5 DIPK1A

Linked Data

• MyVariant Identifiers: chr1:g.93303032T>C (hg19) ; chr1:g.92837475T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837475T>C , CM000663.2:g.92837475T>C	GRCh38
NC_000001.10:g.93303032T>C , CM000663.1:g.93303032T>C	GRCh37
NC_000001.9:g.93075620T>C	NCBI36
NG_011779.1:g.10439T>C
NG_033051.1:g.129048A>G
NG_011779.2:g.10490T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370321.8:c.547T>C (RPL5) MANE Select	ENSP00000359345.2:p.Tyr183His
ENST00000645119.1:c.324+2562T>C (RPL5)	ENSP00000493811.1:n.324+2562T>C
ENST00000645300.1:c.397T>C (RPL5)	ENSP00000495589.1:p.Tyr133His
ENST00000645908.1:n.281T>C (RPL5)
ENST00000370321.7:c.547T>C (RPL5)	ENSP00000359345.2:p.Tyr183His
ENST00000497519.1:n.866T>C (RPL5)
ENST00000615519.4:c.475-4441A>G (DIPK1A)	ENSP00000483279.1:n.475-4441A>G
NM_000969.3:c.547T>C (RPL5)	NP_000960.2:p.Tyr183His
NM_001252273.1:c.475-4441A>G (DIPK1A)	NP_001239202.1:n.475-4441A>G
NM_000969.5:c.547T>C (RPL5) MANE Select	NP_000960.2:p.Tyr183His
NR_146333.1:n.606T>C (RPL5)
NM_001252273.2:c.475-4441A>G (DIPK1A)	NP_001239202.1:n.475-4441A>G