Canonical Allele Identifier: CA3494830
Gene: SPINK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2162264
ClinVar RCV Id: RCV003091190
dbSNP Id: rs543771454

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.147831549C>T , CM000667.2:g.147831549C>T GRCh38
NC_000005.9:g.147211112C>T , CM000667.1:g.147211112C>T GRCh37
NC_000005.8:g.147191305C>T NCBI36
NG_008356.2:g.12683G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296695.10:c.29G>A MANE Select ENSP00000296695.5:p.Ser10Asn
ENST00000296695.9:c.29G>A ENSP00000296695.5:p.Ser10Asn
ENST00000510027.2:c.29G>A ENSP00000427376.1:p.Ser10Asn
NM_003122.4:c.29G>A NP_003113.2:p.Ser10Asn
NM_001354966.1:c.29G>A NP_001341895.1:p.Ser10Asn
NM_001354966.2:c.29G>A NP_001341895.1:p.Ser10Asn
NM_001379610.1:c.29G>A MANE Select NP_001366539.1:p.Ser10Asn
NM_003122.5:c.29G>A NP_003113.2:p.Ser10Asn