Canonical Allele Identifier: CA10582408

Gene: SPINK1

Linked Data

• ClinVar Variation Id: 239503
• ClinVar RCV Id: RCV000231104 ; RCV002487067 ; RCV003463664 ; RCV003929959 ; RCV003114398
• dbSNP Id: rs779832256
• gnomAD v2: 5-147211287-T-C
• gnomAD v3: 5-147831724-T-C
• gnomAD v4: 5-147831724-T-C
• MyVariant Identifiers: chr5:g.147211287T>C (hg19) ; chr5:g.147831724T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.147831724T>C , CM000667.2:g.147831724T>C	GRCh38
NC_000005.9:g.147211287T>C , CM000667.1:g.147211287T>C	GRCh37
NC_000005.8:g.147191480T>C	NCBI36
NG_008356.2:g.12508A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296695.9:c.-147A>G	ENSP00000296695.5:n.-147A>G
NM_003122.4:c.-147A>G	NP_003113.2:n.-147A>G
NM_001354966.1:c.-147A>G	NP_001341895.1:n.-147A>G
NM_001354966.2:c.-147A>G	NP_001341895.1:n.-147A>G
NM_003122.5:c.-147A>G	NP_003113.2:n.-147A>G