Canonical Allele Identifier: CA3494843
Gene: SPINK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 994124
ClinVar RCV Id: RCV001813083
dbSNP Id: rs560283989
ExAC: 5:147211180 C / T
gnomAD v2: 5-147211180-C-T
gnomAD v3: 5-147831617-C-T
gnomAD v4: 5-147831617-C-T
MyVariant Identifiers: chr5:g.147211180C>T (hg19) chr5:g.147831617C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.147831617C>T , CM000667.2:g.147831617C>T GRCh38
NC_000005.9:g.147211180C>T , CM000667.1:g.147211180C>T GRCh37
NC_000005.8:g.147191373C>T NCBI36
NG_008356.2:g.12615G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296695.10:c.-40G>A MANE Select ENSP00000296695.5:n.-40G>A
ENST00000296695.9:c.-40G>A ENSP00000296695.5:n.-40G>A
ENST00000510027.2:c.-40G>A ENSP00000427376.1:n.-40G>A
NM_003122.4:c.-40G>A NP_003113.2:n.-40G>A
NM_001354966.1:c.-40G>A NP_001341895.1:n.-40G>A
NM_001354966.2:c.-40G>A NP_001341895.1:n.-40G>A
NM_001379610.1:c.-40G>A MANE Select NP_001366539.1:n.-40G>A
NM_003122.5:c.-40G>A NP_003113.2:n.-40G>A
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