Canonical Allele Identifier: CA447017901

Gene: SPINK1

Linked Data

• ClinVar Variation Id: 3223137
• ClinVar RCV Id: RCV004508492
• gnomAD v4: 5-147831539-G-A
• MyVariant Identifiers: chr5:g.147211102G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.147831539G>A , CM000667.2:g.147831539G>A	GRCh38
NC_000005.9:g.147211102G>A , CM000667.1:g.147211102G>A	GRCh37
NC_000005.8:g.147191295G>A	NCBI36
NG_008356.2:g.12693C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296695.10:c.39C>T MANE Select	ENSP00000296695.5:p.Ala13=
ENST00000296695.9:c.39C>T	ENSP00000296695.5:p.Ala13=
ENST00000510027.2:c.39C>T	ENSP00000427376.1:p.Ala13=
NM_003122.4:c.39C>T	NP_003113.2:p.Ala13=
NM_001354966.1:c.39C>T	NP_001341895.1:p.Ala13=
NM_001354966.2:c.39C>T	NP_001341895.1:p.Ala13=
NM_001379610.1:c.39C>T MANE Select	NP_001366539.1:p.Ala13=
NM_003122.5:c.39C>T	NP_003113.2:p.Ala13=