Canonical Allele Identifier: CA129690017

Gene: SPINK1

Linked Data

• dbSNP Id: rs148954387
• MyVariant Identifiers: chr5:g.147207583A>T (hg19) ; chr5:g.147828020A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.147828020A>T , CM000667.2:g.147828020A>T	GRCh38
NC_000005.9:g.147207583A>T , CM000667.1:g.147207583A>T	GRCh37
NC_000005.8:g.147187776A>T	NCBI36
NG_008356.2:g.16212T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296695.10:c.194+2T>A MANE Select	ENSP00000296695.5:n.194+2T>A
ENST00000296695.9:c.194+2T>A	ENSP00000296695.5:n.194+2T>A
ENST00000505722.1:n.109+2T>A
ENST00000510027.2:c.196T>A	ENSP00000427376.1:p.Ter66Arg
NM_003122.4:c.194+2T>A	NP_003113.2:n.194+2T>A
NM_001354966.1:c.194+2T>A	NP_001341895.1:n.194+2T>A
NM_001354966.2:c.194+2T>A	NP_001341895.1:n.194+2T>A
NM_001379610.1:c.194+2T>A MANE Select	NP_001366539.1:n.194+2T>A
NM_003122.5:c.194+2T>A	NP_003113.2:n.194+2T>A