Canonical Allele Identifier: CA393729107
Gene: RLBP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89211808A>G , CM000677.2:g.89211808A>G GRCh38
NC_000015.9:g.89755039A>G , CM000677.1:g.89755039A>G GRCh37
NC_000015.8:g.87556043A>G NCBI36
NG_008116.1:g.14884T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000268125.10:c.619T>C MANE Select ENSP00000268125.5:p.Phe207Leu
ENST00000268125.9:c.619T>C ENSP00000268125.5:p.Phe207Leu
ENST00000563254.1:c.36T>C
ENST00000567787.1:c.*197T>C ENSP00000457251.1:n.*197T>C
NM_000326.4:c.619T>C NP_000317.1:p.Phe207Leu
XM_011521870.1:c.619T>C XP_011520172.1:p.Phe207Leu
XM_011521871.1:c.544T>C XP_011520173.1:p.Phe182Leu
XM_011521872.1:c.544T>C XP_011520174.1:p.Phe182Leu
XM_011521870.2:c.619T>C XP_011520172.1:p.Phe207Leu
XM_017022460.1:c.646T>C XP_016877949.1:p.Phe216Leu
NM_000326.5:c.619T>C MANE Select NP_000317.1:p.Phe207Leu