Canonical Allele Identifier: CA393729054

Gene: RLBP1

Linked Data

• MyVariant Identifiers: chr15:g.89755017C>G (hg19) ; chr15:g.89211786C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211786C>G , CM000677.2:g.89211786C>G	GRCh38
NC_000015.9:g.89755017C>G , CM000677.1:g.89755017C>G	GRCh37
NC_000015.8:g.87556021C>G	NCBI36
NG_008116.1:g.14906G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.641G>C MANE Select	ENSP00000268125.5:p.Ser214Thr
ENST00000268125.9:c.641G>C	ENSP00000268125.5:p.Ser214Thr
ENST00000563254.1:c.58G>C
ENST00000567787.1:c.*219G>C	ENSP00000457251.1:n.*219G>C
NM_000326.4:c.641G>C	NP_000317.1:p.Ser214Thr
XM_011521870.1:c.641G>C	XP_011520172.1:p.Ser214Thr
XM_011521871.1:c.566G>C	XP_011520173.1:p.Ser189Thr
XM_011521872.1:c.566G>C	XP_011520174.1:p.Ser189Thr
XM_011521870.2:c.641G>C	XP_011520172.1:p.Ser214Thr
XM_017022460.1:c.668G>C	XP_016877949.1:p.Ser223Thr
NM_000326.5:c.641G>C MANE Select	NP_000317.1:p.Ser214Thr