Canonical Allele Identifier: CA7722237

Gene: RLBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211825A>G , CM000677.2:g.89211825A>G	GRCh38
NC_000015.9:g.89755056A>G , CM000677.1:g.89755056A>G	GRCh37
NC_000015.8:g.87556060A>G	NCBI36
NG_008116.1:g.14867T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000326.5:c.602T>C MANE Select	NP_000317.1:p.Ile201Thr
ENST00000268125.10:c.602T>C MANE Select	ENSP00000268125.5:p.Ile201Thr
NM_000326.4:c.602T>C	NP_000317.1:p.Ile201Thr
ENST00000268125.9:c.602T>C	ENSP00000268125.5:p.Ile201Thr
ENST00000563254.1:c.19T>C
ENST00000567787.1:c.*180T>C	ENSP00000457251.1:n.*180T>C
XM_011521870.1:c.602T>C	XP_011520172.1:p.Ile201Thr
XM_011521870.2:c.602T>C	XP_011520172.1:p.Ile201Thr
XM_011521871.1:c.527T>C	XP_011520173.1:p.Ile176Thr
XM_011521872.1:c.527T>C	XP_011520174.1:p.Ile176Thr
XM_017022460.1:c.629T>C	XP_016877949.1:p.Ile210Thr