Canonical Allele Identifier: CA369608911

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142751928A>T , CM000669.2:g.142751928A>T GRCh38
NC_000007.13:g.142459779A>T , CM000669.1:g.142459779A>T GRCh37
NC_000007.12:g.142139353A>T NCBI36
NG_008307.3:g.7445A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311737.12:c.355A>T (PRSS1) MANE Select ENSP00000308720.7:p.Ile119Phe
ENST00000311737.11:c.355A>T (PRSS1) ENSP00000308720.7:p.Ile119Phe
ENST00000463701.1:n.819A>T (PRSS1)
ENST00000485223.1:n.1353A>T (PRSS1)
ENST00000486171.5:c.397A>T (PRSS1) ENSP00000417854.1:p.Ile133Phe
ENST00000492062.1:c.205A>T (PRSS1) ENSP00000419912.1:p.Ile69Phe
ENST00000610416.2:c.370+30742A>T (TRBC1) ENSP00000482915.1:n.370+30742A>T
ENST00000612126.4:c.355A>T (PRSS1) ENSP00000479959.1:p.Ile119Phe
ENST00000619214.4:c.325A>T (PRSS1) ENSP00000481361.1:p.Ile109Phe
ENST00000633114.1:c.321+34A>T (PRSS2) ENSP00000487822.1:n.321+34A>T
ENST00000634019.1:c.82+3137A>T (PRSS2) ENSP00000488594.1:n.82+3137A>T
NM_002769.4:c.355A>T (PRSS1) NP_002760.1:p.Ile119Phe
XM_011516411.1:c.1030A>T (PRSS1) XP_011514713.1:p.Ile344Phe
NM_002769.5:c.355A>T (PRSS1) MANE Select NP_002760.1:p.Ile119Phe
NR_172947.1:n.297A>T (PRSS1)
NR_172948.1:n.294A>T (PRSS1)
NR_172949.1:n.294A>T (PRSS1)
NR_172950.1:n.208A>T (PRSS1)
NR_172951.1:n.142A>T (PRSS1)