Canonical Allele Identifier: CA393730649

Gene: RLBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89217118A>C , CM000677.2:g.89217118A>C	GRCh38
NC_000015.9:g.89760349A>C , CM000677.1:g.89760349A>C	GRCh37
NC_000015.8:g.87561353A>C	NCBI36
NG_008116.1:g.9574T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000326.5:c.346+2T>G MANE Select	NP_000317.1:n.346+2T>G
ENST00000268125.10:c.346+2T>G MANE Select	ENSP00000268125.5:n.346+2T>G
NM_000326.4:c.346+2T>G	NP_000317.1:n.346+2T>G
ENST00000268125.9:c.346+2T>G	ENSP00000268125.5:n.346+2T>G
ENST00000567787.1:c.183+165T>G	ENSP00000457251.1:n.183+165T>G
XM_011521870.1:c.346+2T>G	XP_011520172.1:n.346+2T>G
XM_011521870.2:c.346+2T>G	XP_011520172.1:n.346+2T>G
XM_011521871.1:c.271+2T>G	XP_011520173.1:n.271+2T>G
XM_011521872.1:c.271+2T>G	XP_011520174.1:n.271+2T>G
XM_017022460.1:c.373+2T>G	XP_016877949.1:n.373+2T>G