Canonical Allele Identifier: CA3494841

Gene: SPINK1

Linked Data

• ClinVar Variation Id: 239504
• ClinVar RCV Id: RCV000233830 ; RCV001812642
• dbSNP Id: rs190219062
• ExAC: 5:147211162 G / A
• gnomAD v2: 5-147211162-G-A
• gnomAD v3: 5-147831599-G-A
• gnomAD v4: 5-147831599-G-A
• MyVariant Identifiers: chr5:g.147211162G>A (hg19) ; chr5:g.147831599G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.147831599G>A , CM000667.2:g.147831599G>A	GRCh38
NC_000005.9:g.147211162G>A , CM000667.1:g.147211162G>A	GRCh37
NC_000005.8:g.147191355G>A	NCBI36
NG_008356.2:g.12633C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296695.10:c.-22C>T MANE Select	ENSP00000296695.5:n.-22C>T
ENST00000296695.9:c.-22C>T	ENSP00000296695.5:n.-22C>T
ENST00000510027.2:c.-22C>T	ENSP00000427376.1:n.-22C>T
NM_003122.4:c.-22C>T	NP_003113.2:n.-22C>T
NM_001354966.1:c.-22C>T	NP_001341895.1:n.-22C>T
NM_001354966.2:c.-22C>T	NP_001341895.1:n.-22C>T
NM_001379610.1:c.-22C>T MANE Select	NP_001366539.1:n.-22C>T
NM_003122.5:c.-22C>T	NP_003113.2:n.-22C>T