Canonical Allele Identifier: CA1082704511

Gene: SPINK1

Linked Data

• dbSNP Id: rs1756492488
• gnomAD v3: 5-147830669-C-G
• gnomAD v4: 5-147830669-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.147830669C>G , CM000667.2:g.147830669C>G	GRCh38
NC_000005.9:g.147210232C>G , CM000667.1:g.147210232C>G	GRCh37
NC_000005.8:g.147190425C>G	NCBI36
NG_008356.2:g.13563G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296695.10:c.55+854G>C MANE Select	ENSP00000296695.5:n.55+854G>C
ENST00000296695.9:c.55+854G>C	ENSP00000296695.5:n.55+854G>C
ENST00000510027.2:c.55+854G>C	ENSP00000427376.1:n.55+854G>C
NM_003122.4:c.55+854G>C	NP_003113.2:n.55+854G>C
NM_001354966.1:c.55+854G>C	NP_001341895.1:n.55+854G>C
NM_001354966.2:c.55+854G>C	NP_001341895.1:n.55+854G>C
NM_001379610.1:c.55+854G>C MANE Select	NP_001366539.1:n.55+854G>C
NM_003122.5:c.55+854G>C	NP_003113.2:n.55+854G>C