Canonical Allele Identifier: CA10642623

Gene: RLBP1

Linked Data

• ClinVar Variation Id: 317224
• ClinVar RCV Id: RCV000265413 ; RCV000305054 ; RCV000360059
• dbSNP Id: rs115275013
• gnomAD v2: 15-89753136-G-A
• gnomAD v3: 15-89209905-G-A
• gnomAD v4: 15-89209905-G-A
• MyVariant Identifiers: chr15:g.89753136G>A (hg19) ; chr15:g.89209905G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89209905G>A , CM000677.2:g.89209905G>A	GRCh38
NC_000015.9:g.89753136G>A , CM000677.1:g.89753136G>A	GRCh37
NC_000015.8:g.87554140G>A	NCBI36
NG_008116.1:g.16787C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.*380C>T MANE Select	ENSP00000268125.5:n.*380C>T
ENST00000268125.9:c.*380C>T	ENSP00000268125.5:n.*380C>T
NM_000326.4:c.*380C>T	NP_000317.1:n.*380C>T
XM_011521870.1:c.*380C>T	XP_011520172.1:n.*380C>T
XM_011521871.1:c.*380C>T	XP_011520173.1:n.*380C>T
XM_011521872.1:c.*380C>T	XP_011520174.1:n.*380C>T
XM_011521870.2:c.*380C>T	XP_011520172.1:n.*380C>T
XM_017022460.1:c.*380C>T	XP_016877949.1:n.*380C>T
NM_000326.5:c.*380C>T MANE Select	NP_000317.1:n.*380C>T