Canonical Allele Identifier: CA393729055

Gene: RLBP1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.641G>A MANE Select	ENSP00000268125.5:p.Ser214Asn
ENST00000268125.9:c.641G>A	ENSP00000268125.5:p.Ser214Asn
ENST00000563254.1:c.58G>A
ENST00000567787.1:c.*219G>A	ENSP00000457251.1:n.*219G>A
NM_000326.4:c.641G>A	NP_000317.1:p.Ser214Asn
XM_011521870.1:c.641G>A	XP_011520172.1:p.Ser214Asn
XM_011521871.1:c.566G>A	XP_011520173.1:p.Ser189Asn
XM_011521872.1:c.566G>A	XP_011520174.1:p.Ser189Asn
XM_011521870.2:c.641G>A	XP_011520172.1:p.Ser214Asn
XM_017022460.1:c.668G>A	XP_016877949.1:p.Ser223Asn
NM_000326.5:c.641G>A MANE Select	NP_000317.1:p.Ser214Asn