Canonical Allele Identifier: CA393729056

Gene: RLBP1

Linked Data

• dbSNP Id: rs1339662311
• gnomAD v2: 15-89755018-T-A
• gnomAD v4: 15-89211787-T-A
• MyVariant Identifiers: chr15:g.89755018T>A (hg19) ; chr15:g.89211787T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211787T>A , CM000677.2:g.89211787T>A	GRCh38
NC_000015.9:g.89755018T>A , CM000677.1:g.89755018T>A	GRCh37
NC_000015.8:g.87556022T>A	NCBI36
NG_008116.1:g.14905A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000268125.10:c.640A>T MANE Select	ENSP00000268125.5:p.Ser214Cys
ENST00000268125.9:c.640A>T	ENSP00000268125.5:p.Ser214Cys
ENST00000563254.1:c.57A>T
ENST00000567787.1:c.*218A>T	ENSP00000457251.1:n.*218A>T
NM_000326.4:c.640A>T	NP_000317.1:p.Ser214Cys
XM_011521870.1:c.640A>T	XP_011520172.1:p.Ser214Cys
XM_011521871.1:c.565A>T	XP_011520173.1:p.Ser189Cys
XM_011521872.1:c.565A>T	XP_011520174.1:p.Ser189Cys
XM_011521870.2:c.640A>T	XP_011520172.1:p.Ser214Cys
XM_017022460.1:c.667A>T	XP_016877949.1:p.Ser223Cys
NM_000326.5:c.640A>T MANE Select	NP_000317.1:p.Ser214Cys