Canonical Allele Identifier: CA2630241153
Gene: RLBP1 HGNC NCBI

Linked Data

gnomAD v4: 15-89210127-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89210127C>T , CM000677.2:g.89210127C>T GRCh38
NC_000015.9:g.89753358C>T , CM000677.1:g.89753358C>T GRCh37
NC_000015.8:g.87554362C>T NCBI36
NG_008116.1:g.16565G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000268125.10:c.*158G>A MANE Select ENSP00000268125.5:n.*158G>A
ENST00000268125.9:c.*158G>A ENSP00000268125.5:n.*158G>A
ENST00000563254.1:c.484G>A
NM_000326.4:c.*158G>A NP_000317.1:n.*158G>A
XM_011521870.1:c.*158G>A XP_011520172.1:n.*158G>A
XM_011521871.1:c.*158G>A XP_011520173.1:n.*158G>A
XM_011521872.1:c.*158G>A XP_011520174.1:n.*158G>A
XM_011521870.2:c.*158G>A XP_011520172.1:n.*158G>A
XM_017022460.1:c.*158G>A XP_016877949.1:n.*158G>A
NM_000326.5:c.*158G>A MANE Select NP_000317.1:n.*158G>A
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