Canonical Allele Identifier: CA369608387

Linked Data

ClinVar Variation Id: 1787235
ClinVar RCV Id: RCV002432868
dbSNP Id: rs1248279792

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142751790C>A , CM000669.2:g.142751790C>A GRCh38
NC_000007.13:g.142459641C>A , CM000669.1:g.142459641C>A GRCh37
NC_000007.12:g.142139215C>A NCBI36
NG_008307.3:g.7307C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311737.12:c.217C>A (PRSS1) MANE Select ENSP00000308720.7:p.Leu73Met
ENST00000311737.11:c.217C>A (PRSS1) ENSP00000308720.7:p.Leu73Met
ENST00000463701.1:n.681C>A (PRSS1)
ENST00000485223.1:n.1215C>A (PRSS1)
ENST00000486171.5:c.259C>A (PRSS1) ENSP00000417854.1:p.Leu87Met
ENST00000492062.1:c.67C>A (PRSS1) ENSP00000419912.1:p.Leu23Met
ENST00000610416.2:c.370+30604C>A (TRBC1) ENSP00000482915.1:n.370+30604C>A
ENST00000612126.4:c.217C>A (PRSS1) ENSP00000479959.1:p.Leu73Met
ENST00000619214.4:c.217C>A (PRSS1) ENSP00000481361.1:p.Leu73Met
ENST00000633114.1:c.217C>A (PRSS2) ENSP00000487822.1:p.Leu73Met
ENST00000634019.1:c.82+2999C>A (PRSS2) ENSP00000488594.1:n.82+2999C>A
NM_002769.4:c.217C>A (PRSS1) NP_002760.1:p.Leu73Met
XM_011516411.1:c.892C>A (PRSS1) XP_011514713.1:p.Leu298Met
NM_002769.5:c.217C>A (PRSS1) MANE Select NP_002760.1:p.Leu73Met
NR_172947.1:n.198-39C>A (PRSS1)
NR_172948.1:n.198-42C>A (PRSS1)
NR_172949.1:n.156C>A (PRSS1)
NR_172950.1:n.70C>A (PRSS1)
NR_172951.1:n.140-136C>A (PRSS1)