Canonical Allele Identifier: CA256107

Linked Data

ClinVar Variation Id: 11880
dbSNP Id: rs111033564

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142751808G>A , CM000669.2:g.142751808G>A GRCh38
NC_000007.13:g.142459659G>A , CM000669.1:g.142459659G>A GRCh37
NC_000007.12:g.142139233G>A NCBI36
NG_008307.3:g.7325G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000311737.12:c.235G>A (PRSS1) MANE Select ENSP00000308720.7:p.Glu79Lys
ENST00000311737.11:c.235G>A (PRSS1) ENSP00000308720.7:p.Glu79Lys
ENST00000463701.1:n.699G>A (PRSS1)
ENST00000485223.1:n.1233G>A (PRSS1)
ENST00000486171.5:c.277G>A (PRSS1) ENSP00000417854.1:p.Glu93Lys
ENST00000492062.1:c.85G>A (PRSS1) ENSP00000419912.1:p.Glu29Lys
ENST00000610416.2:c.370+30622G>A (TRBC1) ENSP00000482915.1:n.370+30622G>A
ENST00000612126.4:c.235G>A (PRSS1) ENSP00000479959.1:p.Glu79Lys
ENST00000619214.4:c.233+2G>A (PRSS1) ENSP00000481361.1:n.233+2G>A
ENST00000633114.1:c.235G>A (PRSS2) ENSP00000487822.1:p.Glu79Lys
ENST00000634019.1:c.82+3017G>A (PRSS2) ENSP00000488594.1:n.82+3017G>A
NM_002769.4:c.235G>A (PRSS1) NP_002760.1:p.Glu79Lys
XM_011516411.1:c.910G>A (PRSS1) XP_011514713.1:p.Glu304Lys
NM_002769.5:c.235G>A (PRSS1) MANE Select NP_002760.1:p.Glu79Lys
NR_172947.1:n.198-21G>A (PRSS1)
NR_172948.1:n.198-24G>A (PRSS1)
NR_172949.1:n.174G>A (PRSS1)
NR_172950.1:n.88G>A (PRSS1)
NR_172951.1:n.140-118G>A (PRSS1)