Canonical Allele Identifier: CA256959
Gene: SPINK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 13761
ClinVar RCV Id: RCV000014771
dbSNP Id: rs104893938
gnomAD v4: 5-147831576-A-G
MyVariant Identifiers: chr5:g.147211139A>G (hg19) chr5:g.147831576A>G (hg38)
PubMed: PMID:10835640
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.147831576A>G , CM000667.2:g.147831576A>G GRCh38
NC_000005.9:g.147211139A>G , CM000667.1:g.147211139A>G GRCh37
NC_000005.8:g.147191332A>G NCBI36
NG_008356.2:g.12656T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296695.10:c.2T>C MANE Select ENSP00000296695.5:p.Met1Thr
ENST00000296695.9:c.2T>C ENSP00000296695.5:p.Met1Thr
ENST00000510027.2:c.2T>C ENSP00000427376.1:p.Met1Thr
NM_003122.4:c.2T>C NP_003113.2:p.Met1Thr
NM_001354966.1:c.2T>C NP_001341895.1:p.Met1Thr
NM_001354966.2:c.2T>C NP_001341895.1:p.Met1Thr
NM_001379610.1:c.2T>C MANE Select NP_001366539.1:p.Met1Thr
NM_003122.5:c.2T>C NP_003113.2:p.Met1Thr
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