Canonical Allele Identifier: CA393729163

Gene: RLBP1

Linked Data

• MyVariant Identifiers: chr15:g.89755063A>G (hg19) ; chr15:g.89211832A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211832A>G , CM000677.2:g.89211832A>G	GRCh38
NC_000015.9:g.89755063A>G , CM000677.1:g.89755063A>G	GRCh37
NC_000015.8:g.87556067A>G	NCBI36
NG_008116.1:g.14860T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.595T>C MANE Select	ENSP00000268125.5:p.Cys199Arg
ENST00000268125.9:c.595T>C	ENSP00000268125.5:p.Cys199Arg
ENST00000563254.1:c.12T>C
ENST00000567787.1:c.*173T>C	ENSP00000457251.1:n.*173T>C
NM_000326.4:c.595T>C	NP_000317.1:p.Cys199Arg
XM_011521870.1:c.595T>C	XP_011520172.1:p.Cys199Arg
XM_011521871.1:c.520T>C	XP_011520173.1:p.Cys174Arg
XM_011521872.1:c.520T>C	XP_011520174.1:p.Cys174Arg
XM_011521870.2:c.595T>C	XP_011520172.1:p.Cys199Arg
XM_017022460.1:c.622T>C	XP_016877949.1:p.Cys208Arg
NM_000326.5:c.595T>C MANE Select	NP_000317.1:p.Cys199Arg