Canonical Allele Identifier: CA393729240

Gene: RLBP1

Linked Data

• MyVariant Identifiers: chr15:g.89755095A>G (hg19) ; chr15:g.89211864A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211864A>G , CM000677.2:g.89211864A>G	GRCh38
NC_000015.9:g.89755095A>G , CM000677.1:g.89755095A>G	GRCh37
NC_000015.8:g.87556099A>G	NCBI36
NG_008116.1:g.14828T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.563T>C MANE Select	ENSP00000268125.5:p.Leu188Pro
ENST00000268125.9:c.563T>C	ENSP00000268125.5:p.Leu188Pro
ENST00000567787.1:c.*141T>C	ENSP00000457251.1:n.*141T>C
NM_000326.4:c.563T>C	NP_000317.1:p.Leu188Pro
XM_011521870.1:c.563T>C	XP_011520172.1:p.Leu188Pro
XM_011521871.1:c.488T>C	XP_011520173.1:p.Leu163Pro
XM_011521872.1:c.488T>C	XP_011520174.1:p.Leu163Pro
XM_011521870.2:c.563T>C	XP_011520172.1:p.Leu188Pro
XM_017022460.1:c.590T>C	XP_016877949.1:p.Leu197Pro
NM_000326.5:c.563T>C MANE Select	NP_000317.1:p.Leu188Pro