Canonical Allele Identifier: CA7722142

Gene: RLBP1

Linked Data

• ClinVar Variation Id: 317231
• ClinVar RCV Id: RCV000307440 ; RCV000365727 ; RCV000401519 ; RCV000898905
• dbSNP Id: rs144615495
• ExAC: 15:89753546 G / C
• gnomAD v2: 15-89753546-G-C
• gnomAD v3: 15-89210315-G-C
• gnomAD v4: 15-89210315-G-C
• MyVariant Identifiers: chr15:g.89753546G>C (hg19) ; chr15:g.89210315G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89210315G>C , CM000677.2:g.89210315G>C	GRCh38
NC_000015.9:g.89753546G>C , CM000677.1:g.89753546G>C	GRCh37
NC_000015.8:g.87554550G>C	NCBI36
NG_008116.1:g.16377C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.924C>G MANE Select	ENSP00000268125.5:p.Pro308=
ENST00000268125.9:c.924C>G	ENSP00000268125.5:p.Pro308=
ENST00000563254.1:c.296C>G
NM_000326.4:c.924C>G	NP_000317.1:p.Pro308=
XM_011521870.1:c.924C>G	XP_011520172.1:p.Pro308=
XM_011521871.1:c.849C>G	XP_011520173.1:p.Pro283=
XM_011521872.1:c.849C>G	XP_011520174.1:p.Pro283=
XM_011521870.2:c.924C>G	XP_011520172.1:p.Pro308=
XM_017022460.1:c.951C>G	XP_016877949.1:p.Pro317=
NM_000326.5:c.924C>G MANE Select	NP_000317.1:p.Pro308=