Canonical Allele Identifier: CA341242935

Gene: RPL5 DIPK1A

Linked Data

• gnomAD v4: 1-92837534-G-C
• MyVariant Identifiers: chr1:g.93303091G>C (hg19) ; chr1:g.92837534G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837534G>C , CM000663.2:g.92837534G>C	GRCh38
NC_000001.10:g.93303091G>C , CM000663.1:g.93303091G>C	GRCh37
NC_000001.9:g.93075679G>C	NCBI36
NG_011779.1:g.10498G>C
NG_033051.1:g.128989C>G
NG_011779.2:g.10549G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.606G>C (RPL5) MANE Select	ENSP00000359345.2:p.Gln202His
ENST00000645119.1:c.324+2621G>C (RPL5)	ENSP00000493811.1:n.324+2621G>C
ENST00000645300.1:c.456G>C (RPL5)	ENSP00000495589.1:p.Gln152His
ENST00000645908.1:n.340G>C (RPL5)
ENST00000370321.7:c.606G>C (RPL5)	ENSP00000359345.2:p.Gln202His
ENST00000497519.1:n.925G>C (RPL5)
ENST00000615519.4:c.475-4500C>G (DIPK1A)	ENSP00000483279.1:n.475-4500C>G
NM_000969.3:c.606G>C (RPL5)	NP_000960.2:p.Gln202His
NM_001252273.1:c.475-4500C>G (DIPK1A)	NP_001239202.1:n.475-4500C>G
NM_000969.5:c.606G>C (RPL5) MANE Select	NP_000960.2:p.Gln202His
NR_146333.1:n.665G>C (RPL5)
NM_001252273.2:c.475-4500C>G (DIPK1A)	NP_001239202.1:n.475-4500C>G