Canonical Allele Identifier: CA342997
Gene: PRSS1 HGNC NCBI
TRBC1 HGNC NCBI
PRSS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 38363
ClinVar RCV Id: RCV000031920 RCV000626826 RCV002247406
dbSNP Id: rs202003805
ExAC: 7:142458412 C / T
gnomAD v2: 7-142458412-C-T
gnomAD v3: 7-142750561-C-T
gnomAD v4: 7-142750561-C-T
MyVariant Identifiers: chr7:g.142458412C>T (hg19) chr7:g.142750561C>T (hg38)
PubMed: PMID:16505482 PMID:17204147 PMID:19191323 PMID:22379635 PMID:22539344 PMID:22749696 PMID:23143602 PMID:24624459 PMID:25546417 PMID:26658045
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142750561C>T , CM000669.2:g.142750561C>T GRCh38
NC_000007.13:g.142458412C>T , CM000669.1:g.142458412C>T GRCh37
NC_000007.12:g.142137986C>T NCBI36
NG_008307.3:g.6078C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311737.12:c.47C>T (PRSS1) MANE Select ENSP00000308720.7:p.Ala16Val
ENST00000311737.11:c.47C>T (PRSS1) ENSP00000308720.7:p.Ala16Val
ENST00000485223.1:n.54-68C>T (PRSS1)
ENST00000486171.5:c.47C>T (PRSS1) ENSP00000417854.1:p.Ala16Val
ENST00000497041.1:n.51C>T (PRSS1)
ENST00000610416.2:c.370+29375C>T (TRBC1) ENSP00000482915.1:n.370+29375C>T
ENST00000612126.4:c.47C>T (PRSS1) ENSP00000479959.1:p.Ala16Val
ENST00000619214.4:c.47C>T (PRSS1) ENSP00000481361.1:p.Ala16Val
ENST00000633114.1:c.47C>T (PRSS2) ENSP00000487822.1:p.Ala16Val
ENST00000634019.1:c.82+1770C>T (PRSS2) ENSP00000488594.1:n.82+1770C>T
NM_002769.4:c.47C>T (PRSS1) NP_002760.1:p.Ala16Val
XM_011516411.1:c.722C>T (PRSS1) XP_011514713.1:p.Ala241Val
NM_002769.5:c.47C>T (PRSS1) MANE Select NP_002760.1:p.Ala16Val
NR_172947.1:n.60C>T (PRSS1)
NR_172948.1:n.60C>T (PRSS1)
NR_172949.1:n.54-68C>T (PRSS1)
NR_172950.1:n.53+1037C>T (PRSS1)
NR_172951.1:n.54-68C>T (PRSS1)
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