Canonical Allele Identifier: CA345639
Gene: SPINK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 132142
ClinVar RCV Id: RCV000119031 RCV000626838 RCV000763134 RCV001529765 RCV001249189 RCV003398721
dbSNP Id: rs148954387
ExAC: 5:147207583 A / G
gnomAD v2: 5-147207583-A-G
gnomAD v3: 5-147828020-A-G
gnomAD v4: 5-147828020-A-G
MyVariant Identifiers: chr5:g.147207583A>G (hg19) chr5:g.147828020A>G (hg38)
PubMed: PMID:16849362 PMID:24624459 PMID:27301361
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.147828020A>G , CM000667.2:g.147828020A>G GRCh38
NC_000005.9:g.147207583A>G , CM000667.1:g.147207583A>G GRCh37
NC_000005.8:g.147187776A>G NCBI36
NG_008356.2:g.16212T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296695.10:c.194+2T>C MANE Select ENSP00000296695.5:n.194+2T>C
ENST00000296695.9:c.194+2T>C ENSP00000296695.5:n.194+2T>C
ENST00000505722.1:n.109+2T>C
ENST00000510027.2:c.196T>C ENSP00000427376.1:p.Ter66Arg
NM_003122.4:c.194+2T>C NP_003113.2:n.194+2T>C
NM_001354966.1:c.194+2T>C NP_001341895.1:n.194+2T>C
NM_001354966.2:c.194+2T>C NP_001341895.1:n.194+2T>C
NM_001379610.1:c.194+2T>C MANE Select NP_001366539.1:n.194+2T>C
NM_003122.5:c.194+2T>C NP_003113.2:n.194+2T>C
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