Canonical Allele Identifier: CA342993
Gene: PRSS1 HGNC NCBI
TRBC1 HGNC NCBI
PRSS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1454580
ClinVar RCV Id: RCV001939531
dbSNP Id: rs397507439
MyVariant Identifiers: chr7:g.142458481T>C (hg19) chr7:g.142750630T>C (hg38)
PubMed: PMID:22379635 PMID:24624459
JSON-LD

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
ENST00000311737.12:c.116T>C (PRSS1) MANE Select ENSP00000308720.7:p.Val39Ala
ENST00000311737.11:c.116T>C (PRSS1) ENSP00000308720.7:p.Val39Ala
ENST00000485223.1:n.55T>C (PRSS1)
ENST00000486171.5:c.116T>C (PRSS1) ENSP00000417854.1:p.Val39Ala
ENST00000497041.1:n.120T>C (PRSS1)
ENST00000610416.2:c.370+29444T>C (TRBC1) ENSP00000482915.1:n.370+29444T>C
ENST00000612126.4:c.116T>C (PRSS1) ENSP00000479959.1:p.Val39Ala
ENST00000619214.4:c.116T>C (PRSS1) ENSP00000481361.1:p.Val39Ala
ENST00000633114.1:c.116T>C (PRSS2) ENSP00000487822.1:p.Val39Ala
ENST00000634019.1:c.82+1839T>C (PRSS2) ENSP00000488594.1:n.82+1839T>C
NM_002769.4:c.116T>C (PRSS1) NP_002760.1:p.Val39Ala
XM_011516411.1:c.791T>C (PRSS1) XP_011514713.1:p.Val264Ala
NM_002769.5:c.116T>C (PRSS1) MANE Select NP_002760.1:p.Val39Ala
NR_172947.1:n.129T>C (PRSS1)
NR_172948.1:n.129T>C (PRSS1)
NR_172949.1:n.55T>C (PRSS1)
NR_172950.1:n.53+1106T>C (PRSS1)
NR_172951.1:n.55T>C (PRSS1)
Search 100 bp 5'
Search 100 bp 3'