Canonical Allele Identifier: CA393729159

Gene: RLBP1

Linked Data

• MyVariant Identifiers: chr15:g.89755062C>A (hg19) ; chr15:g.89211831C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211831C>A , CM000677.2:g.89211831C>A	GRCh38
NC_000015.9:g.89755062C>A , CM000677.1:g.89755062C>A	GRCh37
NC_000015.8:g.87556066C>A	NCBI36
NG_008116.1:g.14861G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.596G>T MANE Select	ENSP00000268125.5:p.Cys199Phe
ENST00000268125.9:c.596G>T	ENSP00000268125.5:p.Cys199Phe
ENST00000563254.1:c.13G>T
ENST00000567787.1:c.*174G>T	ENSP00000457251.1:n.*174G>T
NM_000326.4:c.596G>T	NP_000317.1:p.Cys199Phe
XM_011521870.1:c.596G>T	XP_011520172.1:p.Cys199Phe
XM_011521871.1:c.521G>T	XP_011520173.1:p.Cys174Phe
XM_011521872.1:c.521G>T	XP_011520174.1:p.Cys174Phe
XM_011521870.2:c.596G>T	XP_011520172.1:p.Cys199Phe
XM_017022460.1:c.623G>T	XP_016877949.1:p.Cys208Phe
NM_000326.5:c.596G>T MANE Select	NP_000317.1:p.Cys199Phe