Canonical Allele Identifier: CA3494753

Gene: SPINK1

Linked Data

• ClinVar Variation Id: 410700
• ClinVar RCV Id: RCV000461801 ; RCV000588967 ; RCV001002652
• dbSNP Id: rs760077990
• ExAC: 5:147204261 T / C
• gnomAD v2: 5-147204261-T-C
• gnomAD v3: 5-147824698-T-C
• gnomAD v4: 5-147824698-T-C
• COSMIC: COSM4949940
• MyVariant Identifiers: chr5:g.147204261T>C (hg19) ; chr5:g.147824698T>C (hg38)
• PubMed: PMID:17003641 ; PMID:22343981

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.147824698T>C , CM000667.2:g.147824698T>C	GRCh38
NC_000005.9:g.147204261T>C , CM000667.1:g.147204261T>C	GRCh37
NC_000005.8:g.147184454T>C	NCBI36
NG_008356.2:g.19534A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296695.10:c.203A>G MANE Select	ENSP00000296695.5:p.Gln68Arg
ENST00000296695.9:c.203A>G	ENSP00000296695.5:p.Gln68Arg
ENST00000505722.1:n.118A>G
NM_003122.4:c.203A>G	NP_003113.2:p.Gln68Arg
NM_001354966.1:c.203A>G	NP_001341895.1:p.Gln68Arg
NM_001354966.2:c.203A>G	NP_001341895.1:p.Gln68Arg
NM_001379610.1:c.203A>G MANE Select	NP_001366539.1:p.Gln68Arg
NM_003122.5:c.203A>G	NP_003113.2:p.Gln68Arg