Canonical Allele Identifier: CA393729244

Gene: RLBP1

Linked Data

• MyVariant Identifiers: chr15:g.89755098A>C (hg19) ; chr15:g.89211867A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211867A>C , CM000677.2:g.89211867A>C	GRCh38
NC_000015.9:g.89755098A>C , CM000677.1:g.89755098A>C	GRCh37
NC_000015.8:g.87556102A>C	NCBI36
NG_008116.1:g.14825T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.560T>G MANE Select	ENSP00000268125.5:p.Leu187Arg
ENST00000268125.9:c.560T>G	ENSP00000268125.5:p.Leu187Arg
ENST00000567787.1:c.*138T>G	ENSP00000457251.1:n.*138T>G
NM_000326.4:c.560T>G	NP_000317.1:p.Leu187Arg
XM_011521870.1:c.560T>G	XP_011520172.1:p.Leu187Arg
XM_011521871.1:c.485T>G	XP_011520173.1:p.Leu162Arg
XM_011521872.1:c.485T>G	XP_011520174.1:p.Leu162Arg
XM_011521870.2:c.560T>G	XP_011520172.1:p.Leu187Arg
XM_017022460.1:c.587T>G	XP_016877949.1:p.Leu196Arg
NM_000326.5:c.560T>G MANE Select	NP_000317.1:p.Leu187Arg