Canonical Allele Identifier: CA393729063
Gene: RLBP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89211790C>A , CM000677.2:g.89211790C>A GRCh38
NC_000015.9:g.89755021C>A , CM000677.1:g.89755021C>A GRCh37
NC_000015.8:g.87556025C>A NCBI36
NG_008116.1:g.14902G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000268125.10:c.637G>T MANE Select ENSP00000268125.5:p.Ala213Ser
ENST00000268125.9:c.637G>T ENSP00000268125.5:p.Ala213Ser
ENST00000563254.1:c.54G>T
ENST00000567787.1:c.*215G>T ENSP00000457251.1:n.*215G>T
NM_000326.4:c.637G>T NP_000317.1:p.Ala213Ser
XM_011521870.1:c.637G>T XP_011520172.1:p.Ala213Ser
XM_011521871.1:c.562G>T XP_011520173.1:p.Ala188Ser
XM_011521872.1:c.562G>T XP_011520174.1:p.Ala188Ser
XM_011521870.2:c.637G>T XP_011520172.1:p.Ala213Ser
XM_017022460.1:c.664G>T XP_016877949.1:p.Ala222Ser
NM_000326.5:c.637G>T MANE Select NP_000317.1:p.Ala213Ser