Canonical Allele Identifier: CA7722327

Gene: RLBP1

Linked Data

• ClinVar Variation Id: 317239
• ClinVar RCV Id: RCV000290055 ; RCV000328618 ; RCV000381007 ; RCV000906178 ; RCV001726111 ; RCV003888736
• dbSNP Id: rs143817941
• ExAC: 15:89760391 T / G
• gnomAD v2: 15-89760391-T-G
• gnomAD v3: 15-89217160-T-G
• gnomAD v4: 15-89217160-T-G
• MyVariant Identifiers: chr15:g.89760391T>G (hg19) ; chr15:g.89217160T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89217160T>G , CM000677.2:g.89217160T>G	GRCh38
NC_000015.9:g.89760391T>G , CM000677.1:g.89760391T>G	GRCh37
NC_000015.8:g.87561395T>G	NCBI36
NG_008116.1:g.9532A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.306A>C MANE Select	ENSP00000268125.5:p.Ala102=
ENST00000268125.9:c.306A>C	ENSP00000268125.5:p.Ala102=
ENST00000567787.1:c.183+123A>C	ENSP00000457251.1:n.183+123A>C
NM_000326.4:c.306A>C	NP_000317.1:p.Ala102=
XM_011521870.1:c.306A>C	XP_011520172.1:p.Ala102=
XM_011521871.1:c.231A>C	XP_011520173.1:p.Ala77=
XM_011521872.1:c.231A>C	XP_011520174.1:p.Ala77=
XM_011521870.2:c.306A>C	XP_011520172.1:p.Ala102=
XM_017022460.1:c.333A>C	XP_016877949.1:p.Ala111=
NM_000326.5:c.306A>C MANE Select	NP_000317.1:p.Ala102=