Canonical Allele Identifier: CA418789312

Linked Data

MyVariant Identifiers: chr1:g.93303025C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92837468C>T , CM000663.2:g.92837468C>T GRCh38
NC_000001.10:g.93303025C>T , CM000663.1:g.93303025C>T GRCh37
NC_000001.9:g.93075613C>T NCBI36
NG_011779.1:g.10432C>T
NG_033051.1:g.129055G>A
NG_011779.2:g.10483C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370321.8:c.540C>T (RPL5) MANE Select ENSP00000359345.2:p.Phe180=
ENST00000645119.1:c.324+2555C>T (RPL5) ENSP00000493811.1:n.324+2555C>T
ENST00000645300.1:c.390C>T (RPL5) ENSP00000495589.1:p.Phe130=
ENST00000645908.1:n.274C>T (RPL5)
ENST00000315741.5:c.390C>T (RPL5) ENSP00000359338.2:p.Phe130=
ENST00000370321.7:c.540C>T (RPL5) ENSP00000359345.2:p.Phe180=
ENST00000497519.1:n.859C>T (RPL5)
ENST00000615519.4:c.475-4434G>A (DIPK1A) ENSP00000483279.1:n.475-4434G>A
NM_000969.3:c.540C>T (RPL5) NP_000960.2:p.Phe180=
NM_001252273.1:c.475-4434G>A (DIPK1A) NP_001239202.1:n.475-4434G>A
NM_000969.5:c.540C>T (RPL5) MANE Select NP_000960.2:p.Phe180=
NR_146333.1:n.599C>T (RPL5)
NM_001252273.2:c.475-4434G>A (DIPK1A) NP_001239202.1:n.475-4434G>A