Canonical Allele Identifier: CA341242786

Gene: RPL5 DIPK1A

Linked Data

• COSMIC: COSM4242895
• MyVariant Identifiers: chr1:g.93303026C>T (hg19) ; chr1:g.92837469C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837469C>T , CM000663.2:g.92837469C>T	GRCh38
NC_000001.10:g.93303026C>T , CM000663.1:g.93303026C>T	GRCh37
NC_000001.9:g.93075614C>T	NCBI36
NG_011779.1:g.10433C>T
NG_033051.1:g.129054G>A
NG_011779.2:g.10484C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.541C>T (RPL5) MANE Select	ENSP00000359345.2:p.Pro181Ser
ENST00000645119.1:c.324+2556C>T (RPL5)	ENSP00000493811.1:n.324+2556C>T
ENST00000645300.1:c.391C>T (RPL5)	ENSP00000495589.1:p.Pro131Ser
ENST00000645908.1:n.275C>T (RPL5)
ENST00000315741.5:c.391C>T (RPL5)
ENST00000370321.7:c.541C>T (RPL5)	ENSP00000359345.2:p.Pro181Ser
ENST00000497519.1:n.860C>T (RPL5)
ENST00000615519.4:c.475-4435G>A (DIPK1A)	ENSP00000483279.1:n.475-4435G>A
NM_000969.3:c.541C>T (RPL5)	NP_000960.2:p.Pro181Ser
NM_001252273.1:c.475-4435G>A (DIPK1A)	NP_001239202.1:n.475-4435G>A
NM_000969.5:c.541C>T (RPL5) MANE Select	NP_000960.2:p.Pro181Ser
NR_146333.1:n.600C>T (RPL5)
NM_001252273.2:c.475-4435G>A (DIPK1A)	NP_001239202.1:n.475-4435G>A