Canonical Allele Identifier: CA3494780

Gene: SPINK1

Linked Data

• ClinVar Variation Id: 258913
• ClinVar RCV Id: RCV000251281 ; RCV000408227 ; RCV001706336
• dbSNP Id: rs35737774
• ExAC: 5:147207605 G / A
• gnomAD v2: 5-147207605-G-A
• gnomAD v3: 5-147828042-G-A
• gnomAD v4: 5-147828042-G-A
• MyVariant Identifiers: chr5:g.147207605G>A (hg19) ; chr5:g.147828042G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.147828042G>A , CM000667.2:g.147828042G>A	GRCh38
NC_000005.9:g.147207605G>A , CM000667.1:g.147207605G>A	GRCh37
NC_000005.8:g.147187798G>A	NCBI36
NG_008356.2:g.16190C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296695.10:c.174C>T MANE Select	ENSP00000296695.5:p.Cys58=
ENST00000296695.9:c.174C>T	ENSP00000296695.5:p.Cys58=
ENST00000505722.1:n.89C>T
ENST00000510027.2:c.174C>T	ENSP00000427376.1:p.Cys58=
NM_003122.4:c.174C>T	NP_003113.2:p.Cys58=
NM_001354966.1:c.174C>T	NP_001341895.1:p.Cys58=
NM_001354966.2:c.174C>T	NP_001341895.1:p.Cys58=
NM_001379610.1:c.174C>T MANE Select	NP_001366539.1:p.Cys58=
NM_003122.5:c.174C>T	NP_003113.2:p.Cys58=