Canonical Allele Identifier: CA369608848

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142751911T>C , CM000669.2:g.142751911T>C GRCh38
NC_000007.13:g.142459762T>C , CM000669.1:g.142459762T>C GRCh37
NC_000007.12:g.142139336T>C NCBI36
NG_008307.3:g.7428T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311737.12:c.338T>C (PRSS1) MANE Select ENSP00000308720.7:p.Leu113Pro
ENST00000311737.11:c.338T>C (PRSS1) ENSP00000308720.7:p.Leu113Pro
ENST00000463701.1:n.802T>C (PRSS1)
ENST00000485223.1:n.1336T>C (PRSS1)
ENST00000486171.5:c.380T>C (PRSS1) ENSP00000417854.1:p.Leu127Pro
ENST00000492062.1:c.188T>C (PRSS1) ENSP00000419912.1:p.Leu63Pro
ENST00000610416.2:c.370+30725T>C (TRBC1) ENSP00000482915.1:n.370+30725T>C
ENST00000612126.4:c.338T>C (PRSS1) ENSP00000479959.1:p.Leu113Pro
ENST00000619214.4:c.308T>C (PRSS1) ENSP00000481361.1:p.Leu103Pro
ENST00000633114.1:c.321+17T>C (PRSS2) ENSP00000487822.1:n.321+17T>C
ENST00000634019.1:c.82+3120T>C (PRSS2) ENSP00000488594.1:n.82+3120T>C
NM_002769.4:c.338T>C (PRSS1) NP_002760.1:p.Leu113Pro
XM_011516411.1:c.1013T>C (PRSS1) XP_011514713.1:p.Leu338Pro
NM_002769.5:c.338T>C (PRSS1) MANE Select NP_002760.1:p.Leu113Pro
NR_172947.1:n.280T>C (PRSS1)
NR_172948.1:n.277T>C (PRSS1)
NR_172949.1:n.277T>C (PRSS1)
NR_172950.1:n.191T>C (PRSS1)
NR_172951.1:n.140-15T>C (PRSS1)