Canonical Allele Identifier: CA122838
Gene: RLBP1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.89215133C>T
GRCh37 chr15:g.89758364C>T
Revel Score:
ENST00000268125 (MANE Select) 0.757
gnomAD v2:
15:89758364 C / T
gnomAD v3:
15:89215133 C / T
gnomAD v4:
chr15-89215133-C-T
Joint Max Group AF 0.00003587 (SAS)
Genomes Max Group AF 0.00016894 (SAS)
Exomes Max Group AF 0.00001583 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89215133C>T , CM000677.2:g.89215133C>T GRCh38
NC_000015.9:g.89758364C>T , CM000677.1:g.89758364C>T GRCh37
NC_000015.8:g.87559368C>T NCBI36
NG_008116.1:g.11559G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000268125.10:c.452G>A MANE Select ENSP00000268125.5:p.Arg151Gln
ENST00000268125.9:c.452G>A ENSP00000268125.5:p.Arg151Gln
ENST00000567787.1:c.*30G>A ENSP00000457251.1:n.*30G>A
NM_000326.4:c.452G>A NP_000317.1:p.Arg151Gln
XM_011521870.1:c.452G>A XP_011520172.1:p.Arg151Gln
XM_011521871.1:c.377G>A XP_011520173.1:p.Arg126Gln
XM_011521872.1:c.377G>A XP_011520174.1:p.Arg126Gln
XM_011521870.2:c.452G>A XP_011520172.1:p.Arg151Gln
XM_017022460.1:c.479G>A XP_016877949.1:p.Arg160Gln
NM_000326.5:c.452G>A MANE Select NP_000317.1:p.Arg151Gln
Search 100 bp 5'
Search 100 bp 3'