Canonical Allele Identifier: CA393729168

Gene: RLBP1

Linked Data

• MyVariant Identifiers: chr15:g.89755065A>C (hg19) ; chr15:g.89211834A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211834A>C , CM000677.2:g.89211834A>C	GRCh38
NC_000015.9:g.89755065A>C , CM000677.1:g.89755065A>C	GRCh37
NC_000015.8:g.87556069A>C	NCBI36
NG_008116.1:g.14858T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.593T>G MANE Select	ENSP00000268125.5:p.Phe198Cys
ENST00000268125.9:c.593T>G	ENSP00000268125.5:p.Phe198Cys
ENST00000563254.1:c.10T>G
ENST00000567787.1:c.*171T>G	ENSP00000457251.1:n.*171T>G
NM_000326.4:c.593T>G	NP_000317.1:p.Phe198Cys
XM_011521870.1:c.593T>G	XP_011520172.1:p.Phe198Cys
XM_011521871.1:c.518T>G	XP_011520173.1:p.Phe173Cys
XM_011521872.1:c.518T>G	XP_011520174.1:p.Phe173Cys
XM_011521870.2:c.593T>G	XP_011520172.1:p.Phe198Cys
XM_017022460.1:c.620T>G	XP_016877949.1:p.Phe207Cys
NM_000326.5:c.593T>G MANE Select	NP_000317.1:p.Phe198Cys