Canonical Allele Identifier: CA393729245
Gene: RLBP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89211867A>G , CM000677.2:g.89211867A>G GRCh38
NC_000015.9:g.89755098A>G , CM000677.1:g.89755098A>G GRCh37
NC_000015.8:g.87556102A>G NCBI36
NG_008116.1:g.14825T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000268125.10:c.560T>C MANE Select ENSP00000268125.5:p.Leu187Pro
ENST00000268125.9:c.560T>C ENSP00000268125.5:p.Leu187Pro
ENST00000567787.1:c.*138T>C ENSP00000457251.1:n.*138T>C
NM_000326.4:c.560T>C NP_000317.1:p.Leu187Pro
XM_011521870.1:c.560T>C XP_011520172.1:p.Leu187Pro
XM_011521871.1:c.485T>C XP_011520173.1:p.Leu162Pro
XM_011521872.1:c.485T>C XP_011520174.1:p.Leu162Pro
XM_011521870.2:c.560T>C XP_011520172.1:p.Leu187Pro
XM_017022460.1:c.587T>C XP_016877949.1:p.Leu196Pro
NM_000326.5:c.560T>C MANE Select NP_000317.1:p.Leu187Pro