Canonical Allele Identifier: CA122839
Gene: RLBP1 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.89210794G>A
GRCh37 chr15:g.89754025G>A
Revel Score:
ENST00000268125 (MANE Select) 0.803
gnomAD v2:
15:89754025 G / A
gnomAD v4:
chr15-89210794-G-A
Joint Max Group AF 0.00004673 (NFE)
Exomes Max Group AF 0.00004963 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89210794G>A , CM000677.2:g.89210794G>A GRCh38
NC_000015.9:g.89754025G>A , CM000677.1:g.89754025G>A GRCh37
NC_000015.8:g.87555029G>A NCBI36
NG_008116.1:g.15898C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000268125.10:c.700C>T MANE Select ENSP00000268125.5:p.Arg234Trp
ENST00000268125.9:c.700C>T ENSP00000268125.5:p.Arg234Trp
ENST00000563254.1:c.102-30C>T
ENST00000567787.1:c.*278C>T ENSP00000457251.1:n.*278C>T
NM_000326.4:c.700C>T NP_000317.1:p.Arg234Trp
XM_011521870.1:c.700C>T XP_011520172.1:p.Arg234Trp
XM_011521871.1:c.625C>T XP_011520173.1:p.Arg209Trp
XM_011521872.1:c.625C>T XP_011520174.1:p.Arg209Trp
XM_011521870.2:c.700C>T XP_011520172.1:p.Arg234Trp
XM_017022460.1:c.727C>T XP_016877949.1:p.Arg243Trp
NM_000326.5:c.700C>T MANE Select NP_000317.1:p.Arg234Trp
Search 100 bp 5'
Search 100 bp 3'