Canonical Allele Identifier: CA4904029

Gene: SLURP1

Linked Data

• ClinVar Variation Id: 502120
• ClinVar RCV Id: RCV000598336 ; RCV001164635
• dbSNP Id: rs62636565
• ExAC: 8:143822563 A / G
• gnomAD v2: 8-143822563-A-G
• gnomAD v3: 8-142741145-A-G
• gnomAD v4: 8-142741145-A-G
• MyVariant Identifiers: chr8:g.143822563A>G (hg19) ; chr8:g.142741145A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142741145A>G , CM000670.2:g.142741145A>G	GRCh38
NC_000008.10:g.143822563A>G , CM000670.1:g.143822563A>G	GRCh37
NC_000008.9:g.143819565A>G	NCBI36
NG_011494.1:g.6267T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000246515.2:c.310T>C MANE Select	ENSP00000246515.1:p.Ter104Arg
ENST00000246515.1:c.310T>C	ENSP00000246515.1:p.Ter104Arg
NM_020427.2:c.310T>C	NP_065160.1:p.Ter104Arg
NM_020427.3:c.310T>C MANE Select	NP_065160.1:p.Ter104Arg