Canonical Allele Identifier: CA492075572

Gene: RLBP1

Linked Data

• dbSNP Id: rs1311372213
• gnomAD v2: 15-89754032-G-A
• gnomAD v4: 15-89210801-G-A
• MyVariant Identifiers: chr15:g.89754032G>A (hg19) ; chr15:g.89210801G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89210801G>A , CM000677.2:g.89210801G>A	GRCh38
NC_000015.9:g.89754032G>A , CM000677.1:g.89754032G>A	GRCh37
NC_000015.8:g.87555036G>A	NCBI36
NG_008116.1:g.15891C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000268125.10:c.693C>T MANE Select	ENSP00000268125.5:p.Phe231=
ENST00000268125.9:c.693C>T	ENSP00000268125.5:p.Phe231=
ENST00000563254.1:c.102-37C>T
ENST00000567787.1:c.*271C>T	ENSP00000457251.1:n.*271C>T
NM_000326.4:c.693C>T	NP_000317.1:p.Phe231=
XM_011521870.1:c.693C>T	XP_011520172.1:p.Phe231=
XM_011521871.1:c.618C>T	XP_011520173.1:p.Phe206=
XM_011521872.1:c.618C>T	XP_011520174.1:p.Phe206=
XM_011521870.2:c.693C>T	XP_011520172.1:p.Phe231=
XM_017022460.1:c.720C>T	XP_016877949.1:p.Phe240=
NM_000326.5:c.693C>T MANE Select	NP_000317.1:p.Phe231=