Canonical Allele Identifier: CA7722320

Gene: RLBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89217120C>G , CM000677.2:g.89217120C>G	GRCh38
NC_000015.9:g.89760351C>G , CM000677.1:g.89760351C>G	GRCh37
NC_000015.8:g.87561355C>G	NCBI36
NG_008116.1:g.9572G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000326.5:c.346G>C MANE Select	NP_000317.1:p.Gly116Arg
ENST00000268125.10:c.346G>C MANE Select	ENSP00000268125.5:p.Gly116Arg
NM_000326.4:c.346G>C	NP_000317.1:p.Gly116Arg
ENST00000268125.9:c.346G>C	ENSP00000268125.5:p.Gly116Arg
ENST00000567787.1:c.183+163G>C	ENSP00000457251.1:n.183+163G>C
XM_011521870.1:c.346G>C	XP_011520172.1:p.Gly116Arg
XM_011521870.2:c.346G>C	XP_011520172.1:p.Gly116Arg
XM_011521871.1:c.271G>C	XP_011520173.1:p.Gly91Arg
XM_011521872.1:c.271G>C	XP_011520174.1:p.Gly91Arg
XM_017022460.1:c.373G>C	XP_016877949.1:p.Gly125Arg