Canonical Allele Identifier: CA116948

Gene: SLURP1

Linked Data

• ClinVar Variation Id: 4601
• ClinVar RCV Id: RCV000004864
• dbSNP Id: rs121908317
• ExAC: 8:143822587 G / A
• gnomAD v2: 8-143822587-G-A
• gnomAD v3: 8-142741169-G-A
• gnomAD v4: 8-142741169-G-A
• MyVariant Identifiers: chr8:g.143822587G>A (hg19) ; chr8:g.142741169G>A (hg38)
• PubMed: PMID:11285253

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142741169G>A , CM000670.2:g.142741169G>A	GRCh38
NC_000008.10:g.143822587G>A , CM000670.1:g.143822587G>A	GRCh37
NC_000008.9:g.143819589G>A	NCBI36
NG_011494.1:g.6243C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246515.2:c.286C>T MANE Select	ENSP00000246515.1:p.Arg96Ter
ENST00000246515.1:c.286C>T	ENSP00000246515.1:p.Arg96Ter
NM_020427.2:c.286C>T	NP_065160.1:p.Arg96Ter
NM_020427.3:c.286C>T MANE Select	NP_065160.1:p.Arg96Ter