Canonical Allele Identifier: CA3494804

Gene: SPINK1

Linked Data

• ClinVar Variation Id: 440296
• ClinVar RCV Id: RCV001811008 ; RCV002255423
• dbSNP Id: rs200296519
• ExAC: 5:147209136 A / G
• gnomAD v2: 5-147209136-A-G
• gnomAD v3: 5-147829573-A-G
• gnomAD v4: 5-147829573-A-G
• MyVariant Identifiers: chr5:g.147209136A>G (hg19) ; chr5:g.147829573A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.147829573A>G , CM000667.2:g.147829573A>G	GRCh38
NC_000005.9:g.147209136A>G , CM000667.1:g.147209136A>G	GRCh37
NC_000005.8:g.147189329A>G	NCBI36
NG_008356.2:g.14659T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296695.10:c.87+26T>C MANE Select	ENSP00000296695.5:n.87+26T>C
ENST00000296695.9:c.87+26T>C	ENSP00000296695.5:n.87+26T>C
ENST00000510027.2:c.87+26T>C	ENSP00000427376.1:n.87+26T>C
NM_003122.4:c.87+26T>C	NP_003113.2:n.87+26T>C
NM_001354966.1:c.87+26T>C	NP_001341895.1:n.87+26T>C
NM_001354966.2:c.87+26T>C	NP_001341895.1:n.87+26T>C
NM_001379610.1:c.87+26T>C MANE Select	NP_001366539.1:n.87+26T>C
NM_003122.5:c.87+26T>C	NP_003113.2:n.87+26T>C