Canonical Allele Identifier: CA393728922

Gene: RLBP1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000268125.10:c.694C>T MANE Select	ENSP00000268125.5:p.Pro232Ser
ENST00000268125.9:c.694C>T	ENSP00000268125.5:p.Pro232Ser
ENST00000563254.1:c.102-36C>T
ENST00000567787.1:c.*272C>T	ENSP00000457251.1:n.*272C>T
NM_000326.4:c.694C>T	NP_000317.1:p.Pro232Ser
XM_011521870.1:c.694C>T	XP_011520172.1:p.Pro232Ser
XM_011521871.1:c.619C>T	XP_011520173.1:p.Pro207Ser
XM_011521872.1:c.619C>T	XP_011520174.1:p.Pro207Ser
XM_011521870.2:c.694C>T	XP_011520172.1:p.Pro232Ser
XM_017022460.1:c.721C>T	XP_016877949.1:p.Pro241Ser
NM_000326.5:c.694C>T MANE Select	NP_000317.1:p.Pro232Ser