Canonical Allele Identifier: CA393729126
Gene: RLBP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89211817A>C , CM000677.2:g.89211817A>C GRCh38
NC_000015.9:g.89755048A>C , CM000677.1:g.89755048A>C GRCh37
NC_000015.8:g.87556052A>C NCBI36
NG_008116.1:g.14875T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000268125.10:c.610T>G MANE Select ENSP00000268125.5:p.Phe204Val
ENST00000268125.9:c.610T>G ENSP00000268125.5:p.Phe204Val
ENST00000563254.1:c.27T>G
ENST00000567787.1:c.*188T>G ENSP00000457251.1:n.*188T>G
NM_000326.4:c.610T>G NP_000317.1:p.Phe204Val
XM_011521870.1:c.610T>G XP_011520172.1:p.Phe204Val
XM_011521871.1:c.535T>G XP_011520173.1:p.Phe179Val
XM_011521872.1:c.535T>G XP_011520174.1:p.Phe179Val
XM_011521870.2:c.610T>G XP_011520172.1:p.Phe204Val
XM_017022460.1:c.637T>G XP_016877949.1:p.Phe213Val
NM_000326.5:c.610T>G MANE Select NP_000317.1:p.Phe204Val