Canonical Allele Identifier: CA338991869
Community Standard Title: NM_000975.5(RPL11):c.124C>T (p.Gln42Ter)
Gene: RPL11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23692726C>T , CM000663.2:g.23692726C>T GRCh38
NC_000001.10:g.24019216C>T , CM000663.1:g.24019216C>T GRCh37
NC_000001.9:g.23891803C>T NCBI36
NG_011741.1:g.5923C>T
NG_011741.2:g.5948C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000975.5:c.124C>T MANE Select NP_000966.2:p.Gln42Ter
ENST00000643754.2:c.124C>T MANE Select ENSP00000496250.1:p.Gln42Ter
NM_000975.3:c.124C>T NP_000966.2:p.Gln42Ter
NM_001199802.1:c.121C>T NP_001186731.1:p.Gln41Ter
ENST00000374550.7:c.124C>T ENSP00000363676.3:p.Gln42Ter
ENST00000374550.8:c.121C>T ENSP00000363676.4:p.Gln41Ter
ENST00000443624.5:c.118C>T ENSP00000390839.1:p.Gln40Ter
ENST00000443624.6:n.142C>T
ENST00000458455.1:c.118C>T ENSP00000398888.1:p.Gln40Ter
ENST00000458455.2:c.91C>T ENSP00000398888.2:p.Gln31Ter
ENST00000467075.1:n.344C>T
ENST00000467075.2:c.*220C>T ENSP00000493634.1:n.*220C>T
ENST00000482370.1:n.421C>T
ENST00000482370.2:n.118C>T