Canonical Allele Identifier: CA342993

Gene: PRSS1

Linked Data

• ClinVar Variation Id: 38361
• ClinVar RCV Id: RCV000031918
• dbSNP Id: rs397507439
• MyVariant Identifiers: chr7:g.142458481T>C (hg19) ; chr7:g.142750630T>C (hg38)
• PubMed: PMID:22379635 ; PMID:24624459

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142750630T>C , CM000669.2:g.142750630T>C	GRCh38
NC_000007.13:g.142458481T>C , CM000669.1:g.142458481T>C	GRCh37
NC_000007.12:g.142138055T>C	NCBI36
NG_008307.3:g.6147T>C

Transcript Alleles

HGVS	Amino-acid change
NM_002769.4:c.116T>C	NP_002760.1:p.Val39Ala
XM_011516411.1:c.791T>C	XP_011514713.1:p.Val264Ala
NM_002769.5:c.116T>C MANE Select	NP_002760.1:p.Val39Ala
ENST00000311737.11:c.116T>C	ENSP00000308720.7:p.Val39Ala
ENST00000485223.1:n.55T>C
ENST00000486171.5:c.116T>C	ENSP00000417854.1:p.Val39Ala
ENST00000497041.1:n.120T>C
ENST00000610416.2:c.370+29444T>C	ENSP00000482915.1:p.=
ENST00000612126.4:c.116T>C	ENSP00000479959.1:p.Val39Ala
ENST00000619214.4:c.116T>C	ENSP00000481361.1:p.Val39Ala
ENST00000633114.1:c.116T>C	ENSP00000487822.1:p.Val39Ala
ENST00000634019.1:c.82+1839T>C	ENSP00000488594.1:p.=