Canonical Allele Identifier: CA345639

Gene: SPINK1

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

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