Canonical Allele Identifier: CA2630242551

Gene: RLBP1

Linked Data

• gnomAD v4: 15-89211705-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211705T>C , CM000677.2:g.89211705T>C	GRCh38
NC_000015.9:g.89754936T>C , CM000677.1:g.89754936T>C	GRCh37
NC_000015.8:g.87555940T>C	NCBI36
NG_008116.1:g.14987A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000268125.10:c.684+38A>G MANE Select	ENSP00000268125.5:n.684+38A>G
ENST00000268125.9:c.684+38A>G	ENSP00000268125.5:n.684+38A>G
ENST00000563254.1:c.101+38A>G
ENST00000567787.1:c.*262+38A>G	ENSP00000457251.1:n.*262+38A>G
NM_000326.4:c.684+38A>G	NP_000317.1:n.684+38A>G
XM_011521870.1:c.684+38A>G	XP_011520172.1:n.684+38A>G
XM_011521871.1:c.609+38A>G	XP_011520173.1:n.609+38A>G
XM_011521872.1:c.609+38A>G	XP_011520174.1:n.609+38A>G
XM_011521870.2:c.684+38A>G	XP_011520172.1:n.684+38A>G
XM_017022460.1:c.711+38A>G	XP_016877949.1:n.711+38A>G
NM_000326.5:c.684+38A>G MANE Select	NP_000317.1:n.684+38A>G