Canonical Allele Identifier: CA393729046
Gene: RLBP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89211783A>T , CM000677.2:g.89211783A>T GRCh38
NC_000015.9:g.89755014A>T , CM000677.1:g.89755014A>T GRCh37
NC_000015.8:g.87556018A>T NCBI36
NG_008116.1:g.14909T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000268125.10:c.644T>A MANE Select ENSP00000268125.5:p.Leu215His
ENST00000268125.9:c.644T>A ENSP00000268125.5:p.Leu215His
ENST00000563254.1:c.61T>A
ENST00000567787.1:c.*222T>A ENSP00000457251.1:n.*222T>A
NM_000326.4:c.644T>A NP_000317.1:p.Leu215His
XM_011521870.1:c.644T>A XP_011520172.1:p.Leu215His
XM_011521871.1:c.569T>A XP_011520173.1:p.Leu190His
XM_011521872.1:c.569T>A XP_011520174.1:p.Leu190His
XM_011521870.2:c.644T>A XP_011520172.1:p.Leu215His
XM_017022460.1:c.671T>A XP_016877949.1:p.Leu224His
NM_000326.5:c.644T>A MANE Select NP_000317.1:p.Leu215His