Canonical Allele Identifier: CA2630242549

Gene: RLBP1

Linked Data

• gnomAD v4: 15-89211704-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211704C>A , CM000677.2:g.89211704C>A	GRCh38
NC_000015.9:g.89754935C>A , CM000677.1:g.89754935C>A	GRCh37
NC_000015.8:g.87555939C>A	NCBI36
NG_008116.1:g.14988G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000268125.10:c.684+39G>T MANE Select	ENSP00000268125.5:n.684+39G>T
ENST00000268125.9:c.684+39G>T	ENSP00000268125.5:n.684+39G>T
ENST00000563254.1:c.101+39G>T
ENST00000567787.1:c.*262+39G>T	ENSP00000457251.1:n.*262+39G>T
NM_000326.4:c.684+39G>T	NP_000317.1:n.684+39G>T
XM_011521870.1:c.684+39G>T	XP_011520172.1:n.684+39G>T
XM_011521871.1:c.609+39G>T	XP_011520173.1:n.609+39G>T
XM_011521872.1:c.609+39G>T	XP_011520174.1:n.609+39G>T
XM_011521870.2:c.684+39G>T	XP_011520172.1:n.684+39G>T
XM_017022460.1:c.711+39G>T	XP_016877949.1:n.711+39G>T
NM_000326.5:c.684+39G>T MANE Select	NP_000317.1:n.684+39G>T