Canonical Allele Identifier: CA7722238

Gene: RLBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211833G>A , CM000677.2:g.89211833G>A	GRCh38
NC_000015.9:g.89755064G>A , CM000677.1:g.89755064G>A	GRCh37
NC_000015.8:g.87556068G>A	NCBI36
NG_008116.1:g.14859C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000326.5:c.594C>T MANE Select	NP_000317.1:p.Phe198=
ENST00000268125.10:c.594C>T MANE Select	ENSP00000268125.5:p.Phe198=
NM_000326.4:c.594C>T	NP_000317.1:p.Phe198=
ENST00000268125.9:c.594C>T	ENSP00000268125.5:p.Phe198=
ENST00000563254.1:c.11C>T
ENST00000567787.1:c.*172C>T	ENSP00000457251.1:n.*172C>T
XM_011521870.1:c.594C>T	XP_011520172.1:p.Phe198=
XM_011521870.2:c.594C>T	XP_011520172.1:p.Phe198=
XM_011521871.1:c.519C>T	XP_011520173.1:p.Phe173=
XM_011521872.1:c.519C>T	XP_011520174.1:p.Phe173=
XM_017022460.1:c.621C>T	XP_016877949.1:p.Phe207=