Canonical Allele Identifier: CA332013

Gene: SPINK1

Linked Data

• ClinVar Variation Id: 132716
• ClinVar RCV Id: RCV000119161 ; RCV000855656 ; RCV001508177 ; RCV003935132
• dbSNP Id: rs35523678
• ExAC: 5:147204264 C / T
• gnomAD v2: 5-147204264-C-T
• gnomAD v3: 5-147824701-C-T
• gnomAD v4: 5-147824701-C-T
• MyVariant Identifiers: chr5:g.147204264C>T (hg19) ; chr5:g.147824701C>T (hg38)
• PubMed: PMID:18580441 ; PMID:22343981 ; PMID:22526274 ; PMID:22749696 ; PMID:28502372

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.147824701C>T , CM000667.2:g.147824701C>T	GRCh38
NC_000005.9:g.147204264C>T , CM000667.1:g.147204264C>T	GRCh37
NC_000005.8:g.147184457C>T	NCBI36
NG_008356.2:g.19531G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296695.10:c.200G>A MANE Select	ENSP00000296695.5:p.Arg67His
ENST00000296695.9:c.200G>A	ENSP00000296695.5:p.Arg67His
ENST00000505722.1:n.115G>A
NM_003122.4:c.200G>A	NP_003113.2:p.Arg67His
NM_001354966.1:c.200G>A	NP_001341895.1:p.Arg67His
NM_001354966.2:c.200G>A	NP_001341895.1:p.Arg67His
NM_001379610.1:c.200G>A MANE Select	NP_001366539.1:p.Arg67His
NM_003122.5:c.200G>A	NP_003113.2:p.Arg67His