Canonical Allele Identifier: CA393729865

Gene: RLBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89215139G>A , CM000677.2:g.89215139G>A	GRCh38
NC_000015.9:g.89758370G>A , CM000677.1:g.89758370G>A	GRCh37
NC_000015.8:g.87559374G>A	NCBI36
NG_008116.1:g.11553C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000326.5:c.446C>T MANE Select	NP_000317.1:p.Ser149Phe
ENST00000268125.10:c.446C>T MANE Select	ENSP00000268125.5:p.Ser149Phe
NM_000326.4:c.446C>T	NP_000317.1:p.Ser149Phe
ENST00000268125.9:c.446C>T	ENSP00000268125.5:p.Ser149Phe
ENST00000567787.1:c.*24C>T	ENSP00000457251.1:n.*24C>T
XM_011521870.1:c.446C>T	XP_011520172.1:p.Ser149Phe
XM_011521870.2:c.446C>T	XP_011520172.1:p.Ser149Phe
XM_011521871.1:c.371C>T	XP_011520173.1:p.Ser124Phe
XM_011521872.1:c.371C>T	XP_011520174.1:p.Ser124Phe
XM_017022460.1:c.473C>T	XP_016877949.1:p.Ser158Phe