Canonical Allele Identifier: CA274532634

Gene: RLBP1

Linked Data

• ClinVar Variation Id: 1153708
• ClinVar RCV Id: RCV001495479
• dbSNP Id: rs553757368
• gnomAD v2: 15-89755019-A-G
• gnomAD v4: 15-89211788-A-G
• MyVariant Identifiers: chr15:g.89755019A>G (hg19) ; chr15:g.89211788A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211788A>G , CM000677.2:g.89211788A>G	GRCh38
NC_000015.9:g.89755019A>G , CM000677.1:g.89755019A>G	GRCh37
NC_000015.8:g.87556023A>G	NCBI36
NG_008116.1:g.14904T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000268125.10:c.639T>C MANE Select	ENSP00000268125.5:p.Ala213=
ENST00000268125.9:c.639T>C	ENSP00000268125.5:p.Ala213=
ENST00000563254.1:c.56T>C
ENST00000567787.1:c.*217T>C	ENSP00000457251.1:n.*217T>C
NM_000326.4:c.639T>C	NP_000317.1:p.Ala213=
XM_011521870.1:c.639T>C	XP_011520172.1:p.Ala213=
XM_011521871.1:c.564T>C	XP_011520173.1:p.Ala188=
XM_011521872.1:c.564T>C	XP_011520174.1:p.Ala188=
XM_011521870.2:c.639T>C	XP_011520172.1:p.Ala213=
XM_017022460.1:c.666T>C	XP_016877949.1:p.Ala222=
NM_000326.5:c.639T>C MANE Select	NP_000317.1:p.Ala213=