Canonical Allele Identifier: CA492076008

Gene: RLBP1

Linked Data

• dbSNP Id: rs1199830703
• gnomAD v4: 15-89211782-G-A
• MyVariant Identifiers: chr15:g.89755013G>A (hg19) ; chr15:g.89211782G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211782G>A , CM000677.2:g.89211782G>A	GRCh38
NC_000015.9:g.89755013G>A , CM000677.1:g.89755013G>A	GRCh37
NC_000015.8:g.87556017G>A	NCBI36
NG_008116.1:g.14910C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000268125.10:c.645C>T MANE Select	ENSP00000268125.5:p.Leu215=
ENST00000268125.9:c.645C>T	ENSP00000268125.5:p.Leu215=
ENST00000563254.1:c.62C>T
ENST00000567787.1:c.*223C>T	ENSP00000457251.1:n.*223C>T
NM_000326.4:c.645C>T	NP_000317.1:p.Leu215=
XM_011521870.1:c.645C>T	XP_011520172.1:p.Leu215=
XM_011521871.1:c.570C>T	XP_011520173.1:p.Leu190=
XM_011521872.1:c.570C>T	XP_011520174.1:p.Leu190=
XM_011521870.2:c.645C>T	XP_011520172.1:p.Leu215=
XM_017022460.1:c.672C>T	XP_016877949.1:p.Leu224=
NM_000326.5:c.645C>T MANE Select	NP_000317.1:p.Leu215=