Canonical Allele Identifier: CA7722385

Gene: RLBP1

Linked Data

• ClinVar Variation Id: 317243
• ClinVar RCV Id: RCV000269106 ; RCV000308882 ; RCV000365930 ; RCV000728603 ; RCV001699363
• dbSNP Id: rs181321141
• ExAC: 15:89761790 C / T
• gnomAD v2: 15-89761790-C-T
• gnomAD v3: 15-89218559-C-T
• gnomAD v4: 15-89218559-C-T
• MyVariant Identifiers: chr15:g.89761790C>T (hg19) ; chr15:g.89218559C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89218559C>T , CM000677.2:g.89218559C>T	GRCh38
NC_000015.9:g.89761790C>T , CM000677.1:g.89761790C>T	GRCh37
NC_000015.8:g.87562794C>T	NCBI36
NG_008116.1:g.8133G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.141+6G>A MANE Select	ENSP00000268125.5:n.141+6G>A
ENST00000268125.9:c.141+6G>A	ENSP00000268125.5:n.141+6G>A
ENST00000567787.1:c.141+6G>A	ENSP00000457251.1:n.141+6G>A
NM_000326.4:c.141+6G>A	NP_000317.1:n.141+6G>A
XM_011521870.1:c.141+6G>A	XP_011520172.1:n.141+6G>A
XM_011521872.1:c.-178+6G>A	XP_011520174.1:n.-178+6G>A
XM_011521870.2:c.141+6G>A	XP_011520172.1:n.141+6G>A
XM_017022460.1:c.168+6G>A	XP_016877949.1:n.168+6G>A
NM_000326.5:c.141+6G>A MANE Select	NP_000317.1:n.141+6G>A