Canonical Allele Identifier: CA393728936

Gene: RLBP1

Linked Data

• dbSNP Id: rs1351313234
• gnomAD v2: 15-89754037-A-C
• gnomAD v3: 15-89210806-A-C
• gnomAD v4: 15-89210806-A-C
• MyVariant Identifiers: chr15:g.89754037A>C (hg19) ; chr15:g.89210806A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89210806A>C , CM000677.2:g.89210806A>C	GRCh38
NC_000015.9:g.89754037A>C , CM000677.1:g.89754037A>C	GRCh37
NC_000015.8:g.87555041A>C	NCBI36
NG_008116.1:g.15886T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000268125.10:c.688T>G MANE Select	ENSP00000268125.5:p.Ser230Ala
ENST00000268125.9:c.688T>G	ENSP00000268125.5:p.Ser230Ala
ENST00000563254.1:c.102-42T>G
ENST00000567787.1:c.*266T>G	ENSP00000457251.1:n.*266T>G
NM_000326.4:c.688T>G	NP_000317.1:p.Ser230Ala
XM_011521870.1:c.688T>G	XP_011520172.1:p.Ser230Ala
XM_011521871.1:c.613T>G	XP_011520173.1:p.Ser205Ala
XM_011521872.1:c.613T>G	XP_011520174.1:p.Ser205Ala
XM_011521870.2:c.688T>G	XP_011520172.1:p.Ser230Ala
XM_017022460.1:c.715T>G	XP_016877949.1:p.Ser239Ala
NM_000326.5:c.688T>G MANE Select	NP_000317.1:p.Ser230Ala