Canonical Allele Identifier: CA393728976

Gene: RLBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211750A>G , CM000677.2:g.89211750A>G	GRCh38
NC_000015.9:g.89754981A>G , CM000677.1:g.89754981A>G	GRCh37
NC_000015.8:g.87555985A>G	NCBI36
NG_008116.1:g.14942T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000326.5:c.677T>C MANE Select	NP_000317.1:p.Met226Thr
ENST00000268125.10:c.677T>C MANE Select	ENSP00000268125.5:p.Met226Thr
NM_000326.4:c.677T>C	NP_000317.1:p.Met226Thr
ENST00000268125.9:c.677T>C	ENSP00000268125.5:p.Met226Thr
ENST00000563254.1:c.94T>C
ENST00000567787.1:c.*255T>C	ENSP00000457251.1:n.*255T>C
XM_011521870.1:c.677T>C	XP_011520172.1:p.Met226Thr
XM_011521870.2:c.677T>C	XP_011520172.1:p.Met226Thr
XM_011521871.1:c.602T>C	XP_011520173.1:p.Met201Thr
XM_011521872.1:c.602T>C	XP_011520174.1:p.Met201Thr
XM_017022460.1:c.704T>C	XP_016877949.1:p.Met235Thr