Canonical Allele Identifier: CA393729049

Gene: RLBP1

Linked Data

• gnomAD v4: 15-89211784-G-A
• MyVariant Identifiers: chr15:g.89755015G>A (hg19) ; chr15:g.89211784G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211784G>A , CM000677.2:g.89211784G>A	GRCh38
NC_000015.9:g.89755015G>A , CM000677.1:g.89755015G>A	GRCh37
NC_000015.8:g.87556019G>A	NCBI36
NG_008116.1:g.14908C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000268125.10:c.643C>T MANE Select	ENSP00000268125.5:p.Leu215Phe
ENST00000268125.9:c.643C>T	ENSP00000268125.5:p.Leu215Phe
ENST00000563254.1:c.60C>T
ENST00000567787.1:c.*221C>T	ENSP00000457251.1:n.*221C>T
NM_000326.4:c.643C>T	NP_000317.1:p.Leu215Phe
XM_011521870.1:c.643C>T	XP_011520172.1:p.Leu215Phe
XM_011521871.1:c.568C>T	XP_011520173.1:p.Leu190Phe
XM_011521872.1:c.568C>T	XP_011520174.1:p.Leu190Phe
XM_011521870.2:c.643C>T	XP_011520172.1:p.Leu215Phe
XM_017022460.1:c.670C>T	XP_016877949.1:p.Leu224Phe
NM_000326.5:c.643C>T MANE Select	NP_000317.1:p.Leu215Phe