Canonical Allele Identifier: CA116948
Gene: SLURP1 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.142741169G>A
GRCh37 chr8:g.143822587G>A
gnomAD v2:
8:143822587 G / A
gnomAD v3:
8:142741169 G / A
gnomAD v4:
chr8-142741169-G-A
Joint Max Group AF 0.00001144 (NFE)
Exomes Max Group AF 0.00001214 (NFE)
ClinVar Allele:
19640
ClinVar RCV:
RCV000004864
ClinVar Variation:
4601
dbSNP:
121908317
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'