Canonical Allele Identifier: CA393729161

Gene: RLBP1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.596G>A MANE Select	ENSP00000268125.5:p.Cys199Tyr
ENST00000268125.9:c.596G>A	ENSP00000268125.5:p.Cys199Tyr
ENST00000563254.1:c.13G>A
ENST00000567787.1:c.*174G>A	ENSP00000457251.1:n.*174G>A
NM_000326.4:c.596G>A	NP_000317.1:p.Cys199Tyr
XM_011521870.1:c.596G>A	XP_011520172.1:p.Cys199Tyr
XM_011521871.1:c.521G>A	XP_011520173.1:p.Cys174Tyr
XM_011521872.1:c.521G>A	XP_011520174.1:p.Cys174Tyr
XM_011521870.2:c.596G>A	XP_011520172.1:p.Cys199Tyr
XM_017022460.1:c.623G>A	XP_016877949.1:p.Cys208Tyr
NM_000326.5:c.596G>A MANE Select	NP_000317.1:p.Cys199Tyr