Canonical Allele Identifier: CA393729221

Gene: RLBP1

Linked Data

• dbSNP Id: rs1412617865
• gnomAD v2: 15-89755087-C-G
• gnomAD v4: 15-89211856-C-G
• MyVariant Identifiers: chr15:g.89755087C>G (hg19) ; chr15:g.89211856C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211856C>G , CM000677.2:g.89211856C>G	GRCh38
NC_000015.9:g.89755087C>G , CM000677.1:g.89755087C>G	GRCh37
NC_000015.8:g.87556091C>G	NCBI36
NG_008116.1:g.14836G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.571G>C MANE Select	ENSP00000268125.5:p.Glu191Gln
ENST00000268125.9:c.571G>C	ENSP00000268125.5:p.Glu191Gln
ENST00000567787.1:c.*149G>C	ENSP00000457251.1:n.*149G>C
NM_000326.4:c.571G>C	NP_000317.1:p.Glu191Gln
XM_011521870.1:c.571G>C	XP_011520172.1:p.Glu191Gln
XM_011521871.1:c.496G>C	XP_011520173.1:p.Glu166Gln
XM_011521872.1:c.496G>C	XP_011520174.1:p.Glu166Gln
XM_011521870.2:c.571G>C	XP_011520172.1:p.Glu191Gln
XM_017022460.1:c.598G>C	XP_016877949.1:p.Glu200Gln
NM_000326.5:c.571G>C MANE Select	NP_000317.1:p.Glu191Gln