Canonical Allele Identifier: CA7722241

Gene: RLBP1

Linked Data

• ClinVar Variation Id: 2856906
• ClinVar RCV Id: RCV003696644
• dbSNP Id: rs766012571
• ExAC: 15:89755099 G / A
• gnomAD v2: 15-89755099-G-A
• gnomAD v4: 15-89211868-G-A
• MyVariant Identifiers: chr15:g.89755099G>A (hg19) ; chr15:g.89211868G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211868G>A , CM000677.2:g.89211868G>A	GRCh38
NC_000015.9:g.89755099G>A , CM000677.1:g.89755099G>A	GRCh37
NC_000015.8:g.87556103G>A	NCBI36
NG_008116.1:g.14824C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.559C>T MANE Select	ENSP00000268125.5:p.Leu187=
ENST00000268125.9:c.559C>T	ENSP00000268125.5:p.Leu187=
ENST00000567787.1:c.*137C>T	ENSP00000457251.1:n.*137C>T
NM_000326.4:c.559C>T	NP_000317.1:p.Leu187=
XM_011521870.1:c.559C>T	XP_011520172.1:p.Leu187=
XM_011521871.1:c.484C>T	XP_011520173.1:p.Leu162=
XM_011521872.1:c.484C>T	XP_011520174.1:p.Leu162=
XM_011521870.2:c.559C>T	XP_011520172.1:p.Leu187=
XM_017022460.1:c.586C>T	XP_016877949.1:p.Leu196=
NM_000326.5:c.559C>T MANE Select	NP_000317.1:p.Leu187=