Canonical Allele Identifier: CA361885586

Gene: SPINK1

Linked Data

• MyVariant Identifiers: chr5:g.147211138C>G (hg19) ; chr5:g.147831575C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.147831575C>G , CM000667.2:g.147831575C>G	GRCh38
NC_000005.9:g.147211138C>G , CM000667.1:g.147211138C>G	GRCh37
NC_000005.8:g.147191331C>G	NCBI36
NG_008356.2:g.12657G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296695.10:c.3G>C MANE Select	ENSP00000296695.5:p.Met1Ile
ENST00000296695.9:c.3G>C	ENSP00000296695.5:p.Met1Ile
ENST00000510027.2:c.3G>C	ENSP00000427376.1:p.Met1Ile
NM_003122.4:c.3G>C	NP_003113.2:p.Met1Ile
NM_001354966.1:c.3G>C	NP_001341895.1:p.Met1Ile
NM_001354966.2:c.3G>C	NP_001341895.1:p.Met1Ile
NM_001379610.1:c.3G>C MANE Select	NP_001366539.1:p.Met1Ile
NM_003122.5:c.3G>C	NP_003113.2:p.Met1Ile