Canonical Allele Identifier: CA393729468

Gene: RLBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89215058A>G , CM000677.2:g.89215058A>G	GRCh38
NC_000015.9:g.89758289A>G , CM000677.1:g.89758289A>G	GRCh37
NC_000015.8:g.87559293A>G	NCBI36
NG_008116.1:g.11634T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000326.5:c.525+2T>C MANE Select	NP_000317.1:n.525+2T>C
ENST00000268125.10:c.525+2T>C MANE Select	ENSP00000268125.5:n.525+2T>C
NM_000326.4:c.525+2T>C	NP_000317.1:n.525+2T>C
ENST00000268125.9:c.525+2T>C	ENSP00000268125.5:n.525+2T>C
ENST00000567787.1:c.*103+2T>C	ENSP00000457251.1:n.*103+2T>C
XM_011521870.1:c.525+2T>C	XP_011520172.1:n.525+2T>C
XM_011521870.2:c.525+2T>C	XP_011520172.1:n.525+2T>C
XM_011521871.1:c.450+2T>C	XP_011520173.1:n.450+2T>C
XM_011521872.1:c.450+2T>C	XP_011520174.1:n.450+2T>C
XM_017022460.1:c.552+2T>C	XP_016877949.1:n.552+2T>C