Canonical Allele Identifier: CA361885591

Gene: SPINK1

Linked Data

• ClinVar Variation Id: 496201
• ClinVar RCV Id: RCV000590221 ; RCV000987609
• dbSNP Id: rs369163833
• gnomAD v3: 5-147831577-T-A
• gnomAD v4: 5-147831577-T-A
• MyVariant Identifiers: chr5:g.147211140T>A (hg19) ; chr5:g.147831577T>A (hg38)
• PubMed: PMID:18172691

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.147831577T>A , CM000667.2:g.147831577T>A	GRCh38
NC_000005.9:g.147211140T>A , CM000667.1:g.147211140T>A	GRCh37
NC_000005.8:g.147191333T>A	NCBI36
NG_008356.2:g.12655A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296695.10:c.1A>T MANE Select	ENSP00000296695.5:p.Met1Leu
ENST00000296695.9:c.1A>T	ENSP00000296695.5:p.Met1Leu
ENST00000510027.2:c.1A>T	ENSP00000427376.1:p.Met1Leu
NM_003122.4:c.1A>T	NP_003113.2:p.Met1Leu
NM_001354966.1:c.1A>T	NP_001341895.1:p.Met1Leu
NM_001354966.2:c.1A>T	NP_001341895.1:p.Met1Leu
NM_001379610.1:c.1A>T MANE Select	NP_001366539.1:p.Met1Leu
NM_003122.5:c.1A>T	NP_003113.2:p.Met1Leu