Canonical Allele Identifier: CA492076537
Gene: RLBP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.89755108G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89211877G>A , CM000677.2:g.89211877G>A GRCh38
NC_000015.9:g.89755108G>A , CM000677.1:g.89755108G>A GRCh37
NC_000015.8:g.87556112G>A NCBI36
NG_008116.1:g.14815C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000268125.10:c.550C>T MANE Select ENSP00000268125.5:p.Leu184=
ENST00000268125.9:c.550C>T ENSP00000268125.5:p.Leu184=
ENST00000567787.1:c.*128C>T ENSP00000457251.1:n.*128C>T
NM_000326.4:c.550C>T NP_000317.1:p.Leu184=
XM_011521870.1:c.550C>T XP_011520172.1:p.Leu184=
XM_011521871.1:c.475C>T XP_011520173.1:p.Leu159=
XM_011521872.1:c.475C>T XP_011520174.1:p.Leu159=
XM_011521870.2:c.550C>T XP_011520172.1:p.Leu184=
XM_017022460.1:c.577C>T XP_016877949.1:p.Leu193=
NM_000326.5:c.550C>T MANE Select NP_000317.1:p.Leu184=