Canonical Allele Identifier: CA393729290

Gene: RLBP1

Linked Data

• MyVariant Identifiers: chr15:g.89755118A>C (hg19) ; chr15:g.89211887A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211887A>C , CM000677.2:g.89211887A>C	GRCh38
NC_000015.9:g.89755118A>C , CM000677.1:g.89755118A>C	GRCh37
NC_000015.8:g.87556122A>C	NCBI36
NG_008116.1:g.14805T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.540T>G MANE Select	ENSP00000268125.5:p.Tyr180Ter
ENST00000268125.9:c.540T>G	ENSP00000268125.5:p.Tyr180Ter
ENST00000567787.1:c.*118T>G	ENSP00000457251.1:n.*118T>G
NM_000326.4:c.540T>G	NP_000317.1:p.Tyr180Ter
XM_011521870.1:c.540T>G	XP_011520172.1:p.Tyr180Ter
XM_011521871.1:c.465T>G	XP_011520173.1:p.Tyr155Ter
XM_011521872.1:c.465T>G	XP_011520174.1:p.Tyr155Ter
XM_011521870.2:c.540T>G	XP_011520172.1:p.Tyr180Ter
XM_017022460.1:c.567T>G	XP_016877949.1:p.Tyr189Ter
NM_000326.5:c.540T>G MANE Select	NP_000317.1:p.Tyr180Ter