Canonical Allele Identifier: CA393729194

Gene: RLBP1

Linked Data

• dbSNP Id: rs755543492
• gnomAD v2: 15-89755076-T-G
• gnomAD v4: 15-89211845-T-G
• MyVariant Identifiers: chr15:g.89755076T>G (hg19) ; chr15:g.89211845T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211845T>G , CM000677.2:g.89211845T>G	GRCh38
NC_000015.9:g.89755076T>G , CM000677.1:g.89755076T>G	GRCh37
NC_000015.8:g.87556080T>G	NCBI36
NG_008116.1:g.14847A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.582A>C MANE Select	ENSP00000268125.5:p.Gln194His
ENST00000268125.9:c.582A>C	ENSP00000268125.5:p.Gln194His
ENST00000567787.1:c.*160A>C	ENSP00000457251.1:n.*160A>C
NM_000326.4:c.582A>C	NP_000317.1:p.Gln194His
XM_011521870.1:c.582A>C	XP_011520172.1:p.Gln194His
XM_011521871.1:c.507A>C	XP_011520173.1:p.Gln169His
XM_011521872.1:c.507A>C	XP_011520174.1:p.Gln169His
XM_011521870.2:c.582A>C	XP_011520172.1:p.Gln194His
XM_017022460.1:c.609A>C	XP_016877949.1:p.Gln203His
NM_000326.5:c.582A>C MANE Select	NP_000317.1:p.Gln194His