Canonical Allele Identifier: CA2630242372

Gene: RLBP1

Linked Data

• gnomAD v4: 15-89211597-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211597T>G , CM000677.2:g.89211597T>G	GRCh38
NC_000015.9:g.89754828T>G , CM000677.1:g.89754828T>G	GRCh37
NC_000015.8:g.87555832T>G	NCBI36
NG_008116.1:g.15095A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.684+146A>C MANE Select	ENSP00000268125.5:n.684+146A>C
ENST00000268125.9:c.684+146A>C	ENSP00000268125.5:n.684+146A>C
ENST00000563254.1:c.101+146A>C
ENST00000567787.1:c.*262+146A>C	ENSP00000457251.1:n.*262+146A>C
NM_000326.4:c.684+146A>C	NP_000317.1:n.684+146A>C
XM_011521870.1:c.684+146A>C	XP_011520172.1:n.684+146A>C
XM_011521871.1:c.609+146A>C	XP_011520173.1:n.609+146A>C
XM_011521872.1:c.609+146A>C	XP_011520174.1:n.609+146A>C
XM_011521870.2:c.684+146A>C	XP_011520172.1:n.684+146A>C
XM_017022460.1:c.711+146A>C	XP_016877949.1:n.711+146A>C
NM_000326.5:c.684+146A>C MANE Select	NP_000317.1:n.684+146A>C