Canonical Allele Identifier: CA406700309
Community Standard Title: NM_000979.4(RPL18):c.152T>C (p.Leu51Ser)
Gene: RPL18 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48617362A>G , CM000681.2:g.48617362A>G GRCh38
NC_000019.9:g.49120619A>G , CM000681.1:g.49120619A>G GRCh37
NC_000019.8:g.53812431A>G NCBI36
NG_029867.1:g.3072A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000979.4:c.152T>C MANE Select NP_000970.1:p.Leu51Ser
ENST00000549920.6:c.152T>C MANE Select ENSP00000447001.1:p.Leu51Ser
NM_000979.3:c.152T>C NP_000970.1:p.Leu51Ser
NM_001270490.1:c.65T>C NP_001257419.1:p.Leu22Ser
NM_001270490.2:c.65T>C NP_001257419.1:p.Leu22Ser
NR_073022.1:n.419T>C
NR_073022.2:n.179T>C
ENST00000084795.9:c.156T>C
ENST00000546623.5:c.69T>C
ENST00000547892.1:n.1814T>C
ENST00000547897.5:c.152T>C ENSP00000470988.1:p.Leu51Ser
ENST00000549273.5:c.152T>C ENSP00000449610.1:p.Leu51Ser
ENST00000549370.5:c.144T>C ENSP00000449067.1:p.Val48=
ENST00000549920.5:c.152T>C ENSP00000447001.1:p.Leu51Ser
ENST00000550645.5:c.152T>C ENSP00000448899.1:p.Leu51Ser
ENST00000550671.1:n.560T>C
ENST00000550973.5:c.-5T>C ENSP00000447894.1:n.-5T>C
ENST00000551749.5:n.192T>C
ENST00000552347.5:n.172T>C
ENST00000552588.5:c.65T>C ENSP00000449204.1:p.Leu22Ser
ENST00000552705.5:n.192T>C
ENST00000552851.1:n.86T>C