Canonical Allele Identifier: CA7722231

Gene: RLBP1

Linked Data

• ClinVar Variation Id: 958769
• ClinVar RCV Id: RCV001231989
• dbSNP Id: rs747097996
• ExAC: 15:89755012 G / A
• gnomAD v2: 15-89755012-G-A
• gnomAD v3: 15-89211781-G-A
• gnomAD v4: 15-89211781-G-A
• COSMIC: COSM5448794
• MyVariant Identifiers: chr15:g.89755012G>A (hg19) ; chr15:g.89211781G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211781G>A , CM000677.2:g.89211781G>A	GRCh38
NC_000015.9:g.89755012G>A , CM000677.1:g.89755012G>A	GRCh37
NC_000015.8:g.87556016G>A	NCBI36
NG_008116.1:g.14911C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000268125.10:c.646C>T MANE Select	ENSP00000268125.5:p.Arg216Trp
ENST00000268125.9:c.646C>T	ENSP00000268125.5:p.Arg216Trp
ENST00000563254.1:c.63C>T
ENST00000567787.1:c.*224C>T	ENSP00000457251.1:n.*224C>T
NM_000326.4:c.646C>T	NP_000317.1:p.Arg216Trp
XM_011521870.1:c.646C>T	XP_011520172.1:p.Arg216Trp
XM_011521871.1:c.571C>T	XP_011520173.1:p.Arg191Trp
XM_011521872.1:c.571C>T	XP_011520174.1:p.Arg191Trp
XM_011521870.2:c.646C>T	XP_011520172.1:p.Arg216Trp
XM_017022460.1:c.673C>T	XP_016877949.1:p.Arg225Trp
NM_000326.5:c.646C>T MANE Select	NP_000317.1:p.Arg216Trp