Canonical Allele Identifier: CA393729285

Gene: RLBP1

Linked Data

• MyVariant Identifiers: chr15:g.89755116C>G (hg19) ; chr15:g.89211885C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211885C>G , CM000677.2:g.89211885C>G	GRCh38
NC_000015.9:g.89755116C>G , CM000677.1:g.89755116C>G	GRCh37
NC_000015.8:g.87556120C>G	NCBI36
NG_008116.1:g.14807G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.542G>C MANE Select	ENSP00000268125.5:p.Cys181Ser
ENST00000268125.9:c.542G>C	ENSP00000268125.5:p.Cys181Ser
ENST00000567787.1:c.*120G>C	ENSP00000457251.1:n.*120G>C
NM_000326.4:c.542G>C	NP_000317.1:p.Cys181Ser
XM_011521870.1:c.542G>C	XP_011520172.1:p.Cys181Ser
XM_011521871.1:c.467G>C	XP_011520173.1:p.Cys156Ser
XM_011521872.1:c.467G>C	XP_011520174.1:p.Cys156Ser
XM_011521870.2:c.542G>C	XP_011520172.1:p.Cys181Ser
XM_017022460.1:c.569G>C	XP_016877949.1:p.Cys190Ser
NM_000326.5:c.542G>C MANE Select	NP_000317.1:p.Cys181Ser