Canonical Allele Identifier: CA361885512

Gene: SPINK1

Linked Data

• MyVariant Identifiers: chr5:g.147211101G>T (hg19) ; chr5:g.147831538G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.147831538G>T , CM000667.2:g.147831538G>T	GRCh38
NC_000005.9:g.147211101G>T , CM000667.1:g.147211101G>T	GRCh37
NC_000005.8:g.147191294G>T	NCBI36
NG_008356.2:g.12694C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296695.10:c.40C>A MANE Select	ENSP00000296695.5:p.Leu14Met
ENST00000296695.9:c.40C>A	ENSP00000296695.5:p.Leu14Met
ENST00000510027.2:c.40C>A	ENSP00000427376.1:p.Leu14Met
NM_003122.4:c.40C>A	NP_003113.2:p.Leu14Met
NM_001354966.1:c.40C>A	NP_001341895.1:p.Leu14Met
NM_001354966.2:c.40C>A	NP_001341895.1:p.Leu14Met
NM_001379610.1:c.40C>A MANE Select	NP_001366539.1:p.Leu14Met
NM_003122.5:c.40C>A	NP_003113.2:p.Leu14Met