Canonical Allele Identifier: CA10636608

Gene: RLBP1

Linked Data

• ClinVar Variation Id: 317225
• ClinVar RCV Id: RCV000271341 ; RCV000301674 ; RCV000365778
• dbSNP Id: rs190236976
• gnomAD v2: 15-89753160-C-T
• gnomAD v3: 15-89209929-C-T
• gnomAD v4: 15-89209929-C-T
• MyVariant Identifiers: chr15:g.89753160C>T (hg19) ; chr15:g.89209929C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89209929C>T , CM000677.2:g.89209929C>T	GRCh38
NC_000015.9:g.89753160C>T , CM000677.1:g.89753160C>T	GRCh37
NC_000015.8:g.87554164C>T	NCBI36
NG_008116.1:g.16763G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.*356G>A MANE Select	ENSP00000268125.5:n.*356G>A
ENST00000268125.9:c.*356G>A	ENSP00000268125.5:n.*356G>A
NM_000326.4:c.*356G>A	NP_000317.1:n.*356G>A
XM_011521870.1:c.*356G>A	XP_011520172.1:n.*356G>A
XM_011521871.1:c.*356G>A	XP_011520173.1:n.*356G>A
XM_011521872.1:c.*356G>A	XP_011520174.1:n.*356G>A
XM_011521870.2:c.*356G>A	XP_011520172.1:n.*356G>A
XM_017022460.1:c.*356G>A	XP_016877949.1:n.*356G>A
NM_000326.5:c.*356G>A MANE Select	NP_000317.1:n.*356G>A