Canonical Allele Identifier: CA361885514

Gene: SPINK1

Linked Data

• gnomAD v4: 5-147831540-G-T
• MyVariant Identifiers: chr5:g.147211103G>T (hg19) ; chr5:g.147831540G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.147831540G>T , CM000667.2:g.147831540G>T	GRCh38
NC_000005.9:g.147211103G>T , CM000667.1:g.147211103G>T	GRCh37
NC_000005.8:g.147191296G>T	NCBI36
NG_008356.2:g.12692C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296695.10:c.38C>A MANE Select	ENSP00000296695.5:p.Ala13Asp
ENST00000296695.9:c.38C>A	ENSP00000296695.5:p.Ala13Asp
ENST00000510027.2:c.38C>A	ENSP00000427376.1:p.Ala13Asp
NM_003122.4:c.38C>A	NP_003113.2:p.Ala13Asp
NM_001354966.1:c.38C>A	NP_001341895.1:p.Ala13Asp
NM_001354966.2:c.38C>A	NP_001341895.1:p.Ala13Asp
NM_001379610.1:c.38C>A MANE Select	NP_001366539.1:p.Ala13Asp
NM_003122.5:c.38C>A	NP_003113.2:p.Ala13Asp