Canonical Allele Identifier: CA3494751

Gene: SPINK1

Linked Data

• ClinVar Variation Id: 440299
• ClinVar RCV Id: RCV000506639 ; RCV000660289
• dbSNP Id: rs576564400
• ExAC: 5:147204258 G / A
• gnomAD v2: 5-147204258-G-A
• gnomAD v3: 5-147824695-G-A
• gnomAD v4: 5-147824695-G-A
• MyVariant Identifiers: chr5:g.147204258G>A (hg19) ; chr5:g.147824695G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.147824695G>A , CM000667.2:g.147824695G>A	GRCh38
NC_000005.9:g.147204258G>A , CM000667.1:g.147204258G>A	GRCh37
NC_000005.8:g.147184451G>A	NCBI36
NG_008356.2:g.19537C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296695.10:c.206C>T MANE Select	ENSP00000296695.5:p.Thr69Ile
ENST00000296695.9:c.206C>T	ENSP00000296695.5:p.Thr69Ile
ENST00000505722.1:n.121C>T
NM_003122.4:c.206C>T	NP_003113.2:p.Thr69Ile
NM_001354966.1:c.206C>T	NP_001341895.1:p.Thr69Ile
NM_001354966.2:c.206C>T	NP_001341895.1:p.Thr69Ile
NM_001379610.1:c.206C>T MANE Select	NP_001366539.1:p.Thr69Ile
NM_003122.5:c.206C>T	NP_003113.2:p.Thr69Ile