Canonical Allele Identifier: CA393729295

Gene: RLBP1

Linked Data

• MyVariant Identifiers: chr15:g.89755120A>C (hg19) ; chr15:g.89211889A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211889A>C , CM000677.2:g.89211889A>C	GRCh38
NC_000015.9:g.89755120A>C , CM000677.1:g.89755120A>C	GRCh37
NC_000015.8:g.87556124A>C	NCBI36
NG_008116.1:g.14803T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.538T>G MANE Select	ENSP00000268125.5:p.Tyr180Asp
ENST00000268125.9:c.538T>G	ENSP00000268125.5:p.Tyr180Asp
ENST00000567787.1:c.*116T>G	ENSP00000457251.1:n.*116T>G
NM_000326.4:c.538T>G	NP_000317.1:p.Tyr180Asp
XM_011521870.1:c.538T>G	XP_011520172.1:p.Tyr180Asp
XM_011521871.1:c.463T>G	XP_011520173.1:p.Tyr155Asp
XM_011521872.1:c.463T>G	XP_011520174.1:p.Tyr155Asp
XM_011521870.2:c.538T>G	XP_011520172.1:p.Tyr180Asp
XM_017022460.1:c.565T>G	XP_016877949.1:p.Tyr189Asp
NM_000326.5:c.538T>G MANE Select	NP_000317.1:p.Tyr180Asp