Canonical Allele Identifier: CA116956

Gene: SLURP1

Linked Data

• ClinVar Variation Id: 4607
• ClinVar RCV Id: RCV000004870
• dbSNP Id: rs121908320
• gnomAD v3: 8-142741159-C-T
• gnomAD v4: 8-142741159-C-T
• MyVariant Identifiers: chr8:g.143822577C>T (hg19) ; chr8:g.142741159C>T (hg38)
• PubMed: PMID:14674887 ; PMID:14756676

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142741159C>T , CM000670.2:g.142741159C>T	GRCh38
NC_000008.10:g.143822577C>T , CM000670.1:g.143822577C>T	GRCh37
NC_000008.9:g.143819579C>T	NCBI36
NG_011494.1:g.6253G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246515.2:c.296G>A MANE Select	ENSP00000246515.1:p.Cys99Tyr
ENST00000246515.1:c.296G>A	ENSP00000246515.1:p.Cys99Tyr
NM_020427.2:c.296G>A	NP_065160.1:p.Cys99Tyr
NM_020427.3:c.296G>A MANE Select	NP_065160.1:p.Cys99Tyr