Canonical Allele Identifier: CA123440

Gene: SPINK1

Linked Data

• ClinVar Variation Id: 13760
• ClinVar RCV Id: RCV000014768 ; RCV000119030 ; RCV000656981 ; RCV001258230 ; RCV002468556 ; RCV002283443
• dbSNP Id: rs17107315
• ExAC: 5:147207678 T / C
• gnomAD v2: 5-147207678-T-C
• gnomAD v3: 5-147828115-T-C
• gnomAD v4: 5-147828115-T-C
• MyVariant Identifiers: chr5:g.147207678T>C (hg19) ; chr5:g.147828115T>C (hg38)
• PubMed: PMID:10835640 ; PMID:12011155 ; PMID:12187509 ; PMID:12483248 ; PMID:24624459 ; PMID:27535533

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.147828115T>C , CM000667.2:g.147828115T>C	GRCh38
NC_000005.9:g.147207678T>C , CM000667.1:g.147207678T>C	GRCh37
NC_000005.8:g.147187871T>C	NCBI36
NG_008356.2:g.16117A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296695.10:c.101A>G MANE Select	ENSP00000296695.5:p.Asn34Ser
ENST00000296695.9:c.101A>G	ENSP00000296695.5:p.Asn34Ser
ENST00000505722.1:n.16A>G
ENST00000510027.2:c.101A>G	ENSP00000427376.1:p.Asn34Ser
NM_003122.4:c.101A>G	NP_003113.2:p.Asn34Ser
NM_001354966.1:c.101A>G	NP_001341895.1:p.Asn34Ser
NM_001354966.2:c.101A>G	NP_001341895.1:p.Asn34Ser
NM_001379610.1:c.101A>G MANE Select	NP_001366539.1:p.Asn34Ser
NM_003122.5:c.101A>G	NP_003113.2:p.Asn34Ser