Canonical Allele Identifier: CA274532624
Gene: RLBP1 HGNC NCBI

Linked Data

dbSNP Id: rs140927711

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89211784G>T , CM000677.2:g.89211784G>T GRCh38
NC_000015.9:g.89755015G>T , CM000677.1:g.89755015G>T GRCh37
NC_000015.8:g.87556019G>T NCBI36
NG_008116.1:g.14908C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000268125.10:c.643C>A MANE Select ENSP00000268125.5:p.Leu215Ile
ENST00000268125.9:c.643C>A ENSP00000268125.5:p.Leu215Ile
ENST00000563254.1:c.60C>A
ENST00000567787.1:c.*221C>A ENSP00000457251.1:n.*221C>A
NM_000326.4:c.643C>A NP_000317.1:p.Leu215Ile
XM_011521870.1:c.643C>A XP_011520172.1:p.Leu215Ile
XM_011521871.1:c.568C>A XP_011520173.1:p.Leu190Ile
XM_011521872.1:c.568C>A XP_011520174.1:p.Leu190Ile
XM_011521870.2:c.643C>A XP_011520172.1:p.Leu215Ile
XM_017022460.1:c.670C>A XP_016877949.1:p.Leu224Ile
NM_000326.5:c.643C>A MANE Select NP_000317.1:p.Leu215Ile