Canonical Allele Identifier: CA393729213

Gene: RLBP1

Linked Data

• dbSNP Id: rs1404285770
• gnomAD v2: 15-89755084-C-T
• gnomAD v4: 15-89211853-C-T
• MyVariant Identifiers: chr15:g.89755084C>T (hg19) ; chr15:g.89211853C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211853C>T , CM000677.2:g.89211853C>T	GRCh38
NC_000015.9:g.89755084C>T , CM000677.1:g.89755084C>T	GRCh37
NC_000015.8:g.87556088C>T	NCBI36
NG_008116.1:g.14839G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.574G>A MANE Select	ENSP00000268125.5:p.Glu192Lys
ENST00000268125.9:c.574G>A	ENSP00000268125.5:p.Glu192Lys
ENST00000567787.1:c.*152G>A	ENSP00000457251.1:n.*152G>A
NM_000326.4:c.574G>A	NP_000317.1:p.Glu192Lys
XM_011521870.1:c.574G>A	XP_011520172.1:p.Glu192Lys
XM_011521871.1:c.499G>A	XP_011520173.1:p.Glu167Lys
XM_011521872.1:c.499G>A	XP_011520174.1:p.Glu167Lys
XM_011521870.2:c.574G>A	XP_011520172.1:p.Glu192Lys
XM_017022460.1:c.601G>A	XP_016877949.1:p.Glu201Lys
NM_000326.5:c.574G>A MANE Select	NP_000317.1:p.Glu192Lys