Canonical Allele Identifier: CA341243457
Community Standard Title: NM_000969.5(RPL5):c.715A>G (p.Met239Val)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92840560A>G , CM000663.2:g.92840560A>G GRCh38
NC_000001.10:g.93306117A>G , CM000663.1:g.93306117A>G GRCh37
NC_000001.9:g.93078705A>G NCBI36
NG_011779.1:g.13524A>G
NG_033051.1:g.125963T>C
NG_011779.2:g.13575A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000969.5:c.715A>G (RPL5) MANE Select NP_000960.2:p.Met239Val
ENST00000370321.8:c.715A>G (RPL5) MANE Select ENSP00000359345.2:p.Met239Val
NM_000969.3:c.715A>G (RPL5) NP_000960.2:p.Met239Val
NM_001252273.1:c.474+6623T>C (DIPK1A) NP_001239202.1:n.474+6623T>C
NM_001252273.2:c.474+6623T>C (DIPK1A) NP_001239202.1:n.474+6623T>C
NR_146333.1:n.774A>G (RPL5)
ENST00000370321.7:c.715A>G (RPL5) ENSP00000359345.2:p.Met239Val
ENST00000497519.1:n.1034A>G (RPL5)
ENST00000615519.4:c.474+6623T>C (DIPK1A) ENSP00000483279.1:n.474+6623T>C
ENST00000643510.1:n.231A>G (RPL5)
ENST00000644549.1:n.36A>G (RPL5)
ENST00000645119.1:c.334A>G (RPL5) ENSP00000493811.1:p.Met112Val
ENST00000645300.1:c.565A>G (RPL5) ENSP00000495589.1:p.Met189Val