Canonical Allele Identifier: CA122840

Gene: RLBP1

Linked Data

• ClinVar Variation Id: 13101
• ClinVar RCV Id: RCV000013980 ; RCV000394737 ; RCV000504975 ; RCV001073560 ; RCV001387784
• dbSNP Id: rs137853291
• ExAC: 15:89754981 A / T
• gnomAD v2: 15-89754981-A-T
• gnomAD v3: 15-89211750-A-T
• gnomAD v4: 15-89211750-A-T
• MyVariant Identifiers: chr15:g.89754981A>T (hg19) ; chr15:g.89211750A>T (hg38)
• PubMed: PMID:10102299 ; PMID:12536144 ; PMID:18344446 ; PMID:22551409 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211750A>T , CM000677.2:g.89211750A>T	GRCh38
NC_000015.9:g.89754981A>T , CM000677.1:g.89754981A>T	GRCh37
NC_000015.8:g.87555985A>T	NCBI36
NG_008116.1:g.14942T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.677T>A MANE Select	ENSP00000268125.5:p.Met226Lys
ENST00000268125.9:c.677T>A	ENSP00000268125.5:p.Met226Lys
ENST00000563254.1:c.94T>A
ENST00000567787.1:c.*255T>A	ENSP00000457251.1:n.*255T>A
NM_000326.4:c.677T>A	NP_000317.1:p.Met226Lys
XM_011521870.1:c.677T>A	XP_011520172.1:p.Met226Lys
XM_011521871.1:c.602T>A	XP_011520173.1:p.Met201Lys
XM_011521872.1:c.602T>A	XP_011520174.1:p.Met201Lys
XM_011521870.2:c.677T>A	XP_011520172.1:p.Met226Lys
XM_017022460.1:c.704T>A	XP_016877949.1:p.Met235Lys
NM_000326.5:c.677T>A MANE Select	NP_000317.1:p.Met226Lys