Canonical Allele Identifier: CA972585338

Gene: RLBP1

Linked Data

• dbSNP Id: rs1442974250
• gnomAD v3: 15-89210124-C-G
• gnomAD v4: 15-89210124-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89210124C>G , CM000677.2:g.89210124C>G	GRCh38
NC_000015.9:g.89753355C>G , CM000677.1:g.89753355C>G	GRCh37
NC_000015.8:g.87554359C>G	NCBI36
NG_008116.1:g.16568G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.*161G>C MANE Select	ENSP00000268125.5:n.*161G>C
ENST00000268125.9:c.*161G>C	ENSP00000268125.5:n.*161G>C
ENST00000563254.1:c.487G>C
NM_000326.4:c.*161G>C	NP_000317.1:n.*161G>C
XM_011521870.1:c.*161G>C	XP_011520172.1:n.*161G>C
XM_011521871.1:c.*161G>C	XP_011520173.1:n.*161G>C
XM_011521872.1:c.*161G>C	XP_011520174.1:n.*161G>C
XM_011521870.2:c.*161G>C	XP_011520172.1:n.*161G>C
XM_017022460.1:c.*161G>C	XP_016877949.1:n.*161G>C
NM_000326.5:c.*161G>C MANE Select	NP_000317.1:n.*161G>C