Canonical Allele Identifier: CA116950

Gene: SLURP1

Linked Data

• ClinVar Variation Id: 4602
• ClinVar RCV Id: RCV000004865 ; RCV002292455
• dbSNP Id: rs28937888
• ExAC: 8:143822617 C / T
• gnomAD v2: 8-143822617-C-T
• gnomAD v3: 8-142741199-C-T
• gnomAD v4: 8-142741199-C-T
• MyVariant Identifiers: chr8:g.143822617C>T (hg19) ; chr8:g.142741199C>T (hg38)
• PubMed: PMID:12483299

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142741199C>T , CM000670.2:g.142741199C>T	GRCh38
NC_000008.10:g.143822617C>T , CM000670.1:g.143822617C>T	GRCh37
NC_000008.9:g.143819619C>T	NCBI36
NG_011494.1:g.6213G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246515.2:c.256G>A MANE Select	ENSP00000246515.1:p.Gly86Arg
ENST00000246515.1:c.256G>A	ENSP00000246515.1:p.Gly86Arg
NM_020427.2:c.256G>A	NP_065160.1:p.Gly86Arg
NM_020427.3:c.256G>A MANE Select	NP_065160.1:p.Gly86Arg