Canonical Allele Identifier: CA129690278
Gene: SPINK1 HGNC NCBI

Linked Data

dbSNP Id: rs1042719146
gnomAD v2: 5-147210045-G-A
gnomAD v3: 5-147830482-G-A
gnomAD v4: 5-147830482-G-A
MyVariant Identifiers: chr5:g.147210045G>A (hg19) chr5:g.147830482G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.147830482G>A , CM000667.2:g.147830482G>A GRCh38
NC_000005.9:g.147210045G>A , CM000667.1:g.147210045G>A GRCh37
NC_000005.8:g.147190238G>A NCBI36
NG_008356.2:g.13750C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296695.10:c.56-852C>T MANE Select ENSP00000296695.5:n.56-852C>T
ENST00000296695.9:c.56-852C>T ENSP00000296695.5:n.56-852C>T
ENST00000510027.2:c.56-852C>T ENSP00000427376.1:n.56-852C>T
NM_003122.4:c.56-852C>T NP_003113.2:n.56-852C>T
NM_001354966.1:c.56-852C>T NP_001341895.1:n.56-852C>T
NM_001354966.2:c.56-852C>T NP_001341895.1:n.56-852C>T
NM_001379610.1:c.56-852C>T MANE Select NP_001366539.1:n.56-852C>T
NM_003122.5:c.56-852C>T NP_003113.2:n.56-852C>T
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