Canonical Allele Identifier: CA952420

Gene: RPL5 DIPK1A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92834858T>C , CM000663.2:g.92834858T>C	GRCh38
NC_000001.10:g.93300415T>C , CM000663.1:g.93300415T>C	GRCh37
NC_000001.9:g.93073003T>C	NCBI36
NG_011779.1:g.7822T>C
NG_033051.1:g.131665A>G
NG_011779.2:g.7873T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000969.5:c.269T>C (RPL5) MANE Select	NP_000960.2:p.Val90Ala
ENST00000370321.8:c.269T>C (RPL5) MANE Select	ENSP00000359345.2:p.Val90Ala
NM_000969.3:c.269T>C (RPL5)	NP_000960.2:p.Val90Ala
NM_001252273.1:c.475-1824A>G (DIPK1A)	NP_001239202.1:n.475-1824A>G
NM_001252273.2:c.475-1824A>G (DIPK1A)	NP_001239202.1:n.475-1824A>G
NR_146333.1:n.398T>C (RPL5)
ENST00000315741.5:c.119T>C (RPL5)	ENSP00000359338.2:p.Val40Ala
ENST00000370321.7:c.269T>C (RPL5)	ENSP00000359345.2:p.Val90Ala
ENST00000461952.1:n.979T>C (RPL5)
ENST00000470843.5:c.*231T>C (RPL5)	ENSP00000473675.1:n.*231T>C
ENST00000615519.4:c.475-1824A>G (DIPK1A)	ENSP00000483279.1:n.475-1824A>G
ENST00000645119.1:c.269T>C (RPL5)	ENSP00000493811.1:p.Val90Ala
ENST00000645300.1:c.119T>C (RPL5)	ENSP00000495589.1:p.Val40Ala
ENST00000645908.1:n.3T>C (RPL5)
ENST00000646852.1:n.298T>C (RPL5)