Canonical Allele Identifier: CA393729288

Gene: RLBP1

Linked Data

• MyVariant Identifiers: chr15:g.89755117A>G (hg19) ; chr15:g.89211886A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211886A>G , CM000677.2:g.89211886A>G	GRCh38
NC_000015.9:g.89755117A>G , CM000677.1:g.89755117A>G	GRCh37
NC_000015.8:g.87556121A>G	NCBI36
NG_008116.1:g.14806T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.541T>C MANE Select	ENSP00000268125.5:p.Cys181Arg
ENST00000268125.9:c.541T>C	ENSP00000268125.5:p.Cys181Arg
ENST00000567787.1:c.*119T>C	ENSP00000457251.1:n.*119T>C
NM_000326.4:c.541T>C	NP_000317.1:p.Cys181Arg
XM_011521870.1:c.541T>C	XP_011520172.1:p.Cys181Arg
XM_011521871.1:c.466T>C	XP_011520173.1:p.Cys156Arg
XM_011521872.1:c.466T>C	XP_011520174.1:p.Cys156Arg
XM_011521870.2:c.541T>C	XP_011520172.1:p.Cys181Arg
XM_017022460.1:c.568T>C	XP_016877949.1:p.Cys190Arg
NM_000326.5:c.541T>C MANE Select	NP_000317.1:p.Cys181Arg