Canonical Allele Identifier: CA10636611

Gene: RLBP1

Linked Data

• ClinVar Variation Id: 317226
• ClinVar RCV Id: RCV000277300 ; RCV000326353 ; RCV000381088
• dbSNP Id: rs886051500
• gnomAD v4: 15-89209951-A-G
• MyVariant Identifiers: chr15:g.89753182A>G (hg19) ; chr15:g.89209951A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89209951A>G , CM000677.2:g.89209951A>G	GRCh38
NC_000015.9:g.89753182A>G , CM000677.1:g.89753182A>G	GRCh37
NC_000015.8:g.87554186A>G	NCBI36
NG_008116.1:g.16741T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.*334T>C MANE Select	ENSP00000268125.5:n.*334T>C
ENST00000268125.9:c.*334T>C	ENSP00000268125.5:n.*334T>C
NM_000326.4:c.*334T>C	NP_000317.1:n.*334T>C
XM_011521870.1:c.*334T>C	XP_011520172.1:n.*334T>C
XM_011521871.1:c.*334T>C	XP_011520173.1:n.*334T>C
XM_011521872.1:c.*334T>C	XP_011520174.1:n.*334T>C
XM_011521870.2:c.*334T>C	XP_011520172.1:n.*334T>C
XM_017022460.1:c.*334T>C	XP_016877949.1:n.*334T>C
NM_000326.5:c.*334T>C MANE Select	NP_000317.1:n.*334T>C