Canonical Allele Identifier: CA393728924

Gene: RLBP1

Linked Data

• gnomAD v4: 15-89210800-G-T
• MyVariant Identifiers: chr15:g.89754031G>T (hg19) ; chr15:g.89210800G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89210800G>T , CM000677.2:g.89210800G>T	GRCh38
NC_000015.9:g.89754031G>T , CM000677.1:g.89754031G>T	GRCh37
NC_000015.8:g.87555035G>T	NCBI36
NG_008116.1:g.15892C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000268125.10:c.694C>A MANE Select	ENSP00000268125.5:p.Pro232Thr
ENST00000268125.9:c.694C>A	ENSP00000268125.5:p.Pro232Thr
ENST00000563254.1:c.102-36C>A
ENST00000567787.1:c.*272C>A	ENSP00000457251.1:n.*272C>A
NM_000326.4:c.694C>A	NP_000317.1:p.Pro232Thr
XM_011521870.1:c.694C>A	XP_011520172.1:p.Pro232Thr
XM_011521871.1:c.619C>A	XP_011520173.1:p.Pro207Thr
XM_011521872.1:c.619C>A	XP_011520174.1:p.Pro207Thr
XM_011521870.2:c.694C>A	XP_011520172.1:p.Pro232Thr
XM_017022460.1:c.721C>A	XP_016877949.1:p.Pro241Thr
NM_000326.5:c.694C>A MANE Select	NP_000317.1:p.Pro232Thr