Canonical Allele Identifier: CA235941

Gene: RLBP1

Linked Data

• ClinVar Variation Id: 191063
• ClinVar RCV Id: RCV000171241
• dbSNP Id: rs786205494
• MyVariant Identifiers: chr15:g.89753952A>C (hg19) ; chr15:g.89210721A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89210721A>C , CM000677.2:g.89210721A>C	GRCh38
NC_000015.9:g.89753952A>C , CM000677.1:g.89753952A>C	GRCh37
NC_000015.8:g.87554956A>C	NCBI36
NG_008116.1:g.15971T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.773T>G MANE Select	ENSP00000268125.5:p.Leu258Trp
ENST00000268125.9:c.773T>G	ENSP00000268125.5:p.Leu258Trp
ENST00000563254.1:c.145T>G
NM_000326.4:c.773T>G	NP_000317.1:p.Leu258Trp
XM_011521870.1:c.773T>G	XP_011520172.1:p.Leu258Trp
XM_011521871.1:c.698T>G	XP_011520173.1:p.Leu233Trp
XM_011521872.1:c.698T>G	XP_011520174.1:p.Leu233Trp
XM_011521870.2:c.773T>G	XP_011520172.1:p.Leu258Trp
XM_017022460.1:c.800T>G	XP_016877949.1:p.Leu267Trp
NM_000326.5:c.773T>G MANE Select	NP_000317.1:p.Leu258Trp