Canonical Allele Identifier: CA393729266

Gene: RLBP1

Linked Data

• MyVariant Identifiers: chr15:g.89755107A>T (hg19) ; chr15:g.89211876A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211876A>T , CM000677.2:g.89211876A>T	GRCh38
NC_000015.9:g.89755107A>T , CM000677.1:g.89755107A>T	GRCh37
NC_000015.8:g.87556111A>T	NCBI36
NG_008116.1:g.14816T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.551T>A MANE Select	ENSP00000268125.5:p.Leu184Gln
ENST00000268125.9:c.551T>A	ENSP00000268125.5:p.Leu184Gln
ENST00000567787.1:c.*129T>A	ENSP00000457251.1:n.*129T>A
NM_000326.4:c.551T>A	NP_000317.1:p.Leu184Gln
XM_011521870.1:c.551T>A	XP_011520172.1:p.Leu184Gln
XM_011521871.1:c.476T>A	XP_011520173.1:p.Leu159Gln
XM_011521872.1:c.476T>A	XP_011520174.1:p.Leu159Gln
XM_011521870.2:c.551T>A	XP_011520172.1:p.Leu184Gln
XM_017022460.1:c.578T>A	XP_016877949.1:p.Leu193Gln
NM_000326.5:c.551T>A MANE Select	NP_000317.1:p.Leu184Gln