Canonical Allele Identifier: CA393729251

Gene: RLBP1

Linked Data

• MyVariant Identifiers: chr15:g.89755101T>A (hg19) ; chr15:g.89211870T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211870T>A , CM000677.2:g.89211870T>A	GRCh38
NC_000015.9:g.89755101T>A , CM000677.1:g.89755101T>A	GRCh37
NC_000015.8:g.87556105T>A	NCBI36
NG_008116.1:g.14822A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.557A>T MANE Select	ENSP00000268125.5:p.Lys186Met
ENST00000268125.9:c.557A>T	ENSP00000268125.5:p.Lys186Met
ENST00000567787.1:c.*135A>T	ENSP00000457251.1:n.*135A>T
NM_000326.4:c.557A>T	NP_000317.1:p.Lys186Met
XM_011521870.1:c.557A>T	XP_011520172.1:p.Lys186Met
XM_011521871.1:c.482A>T	XP_011520173.1:p.Lys161Met
XM_011521872.1:c.482A>T	XP_011520174.1:p.Lys161Met
XM_011521870.2:c.557A>T	XP_011520172.1:p.Lys186Met
XM_017022460.1:c.584A>T	XP_016877949.1:p.Lys195Met
NM_000326.5:c.557A>T MANE Select	NP_000317.1:p.Lys186Met