Canonical Allele Identifier: CA338993089
Community Standard Title: NM_000975.5(RPL11):c.265-2A>G
Gene: RPL11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.23694658A>G , CM000663.2:g.23694658A>G GRCh38
NC_000001.10:g.24021148A>G , CM000663.1:g.24021148A>G GRCh37
NC_000001.9:g.23893735A>G NCBI36
NG_011741.1:g.7855A>G
NG_011741.2:g.7880A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000975.5:c.265-2A>G MANE Select NP_000966.2:n.265-2A>G
ENST00000643754.2:c.265-2A>G MANE Select ENSP00000496250.1:n.265-2A>G
NM_000975.3:c.265-2A>G NP_000966.2:n.265-2A>G
NM_001199802.1:c.262-2A>G NP_001186731.1:n.262-2A>G
ENST00000374550.7:c.265-2A>G ENSP00000363676.3:n.265-2A>G
ENST00000374550.8:c.262-2A>G ENSP00000363676.4:n.262-2A>G
ENST00000443624.5:c.259-2A>G ENSP00000390839.1:n.259-2A>G
ENST00000443624.6:n.283-2A>G
ENST00000458455.1:c.259-2A>G ENSP00000398888.1:n.259-2A>G
ENST00000458455.2:c.232-2A>G ENSP00000398888.2:n.232-2A>G
ENST00000467075.2:c.*361-2A>G ENSP00000493634.1:n.*361-2A>G
ENST00000482370.1:n.562-2A>G
ENST00000482370.2:n.259-2A>G