Canonical Allele Identifier: CA393729122

Gene: RLBP1

Linked Data

• gnomAD v4: 15-89211815-G-C
• MyVariant Identifiers: chr15:g.89755046G>C (hg19) ; chr15:g.89211815G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211815G>C , CM000677.2:g.89211815G>C	GRCh38
NC_000015.9:g.89755046G>C , CM000677.1:g.89755046G>C	GRCh37
NC_000015.8:g.87556050G>C	NCBI36
NG_008116.1:g.14877C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.612C>G MANE Select	ENSP00000268125.5:p.Phe204Leu
ENST00000268125.9:c.612C>G	ENSP00000268125.5:p.Phe204Leu
ENST00000563254.1:c.29C>G
ENST00000567787.1:c.*190C>G	ENSP00000457251.1:n.*190C>G
NM_000326.4:c.612C>G	NP_000317.1:p.Phe204Leu
XM_011521870.1:c.612C>G	XP_011520172.1:p.Phe204Leu
XM_011521871.1:c.537C>G	XP_011520173.1:p.Phe179Leu
XM_011521872.1:c.537C>G	XP_011520174.1:p.Phe179Leu
XM_011521870.2:c.612C>G	XP_011520172.1:p.Phe204Leu
XM_017022460.1:c.639C>G	XP_016877949.1:p.Phe213Leu
NM_000326.5:c.612C>G MANE Select	NP_000317.1:p.Phe204Leu