Canonical Allele Identifier: CA3494755

Gene: SPINK1

Linked Data

• ClinVar Variation Id: 410699
• ClinVar RCV Id: RCV000476237 ; RCV000780756 ; RCV001508178 ; RCV003431019
• dbSNP Id: rs143014431
• ExAC: 5:147204266 T / G
• gnomAD v2: 5-147204266-T-G
• gnomAD v3: 5-147824703-T-G
• gnomAD v4: 5-147824703-T-G
• MyVariant Identifiers: chr5:g.147204266T>G (hg19) ; chr5:g.147824703T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.147824703T>G , CM000667.2:g.147824703T>G	GRCh38
NC_000005.9:g.147204266T>G , CM000667.1:g.147204266T>G	GRCh37
NC_000005.8:g.147184459T>G	NCBI36
NG_008356.2:g.19529A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296695.10:c.198A>C MANE Select	ENSP00000296695.5:p.Lys66Asn
ENST00000296695.9:c.198A>C	ENSP00000296695.5:p.Lys66Asn
ENST00000505722.1:n.113A>C
NM_003122.4:c.198A>C	NP_003113.2:p.Lys66Asn
NM_001354966.1:c.198A>C	NP_001341895.1:p.Lys66Asn
NM_001354966.2:c.198A>C	NP_001341895.1:p.Lys66Asn
NM_001379610.1:c.198A>C MANE Select	NP_001366539.1:p.Lys66Asn
NM_003122.5:c.198A>C	NP_003113.2:p.Lys66Asn