Canonical Allele Identifier: CA4529902

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142751852C>T , CM000669.2:g.142751852C>T GRCh38
NC_000007.13:g.142459703C>T , CM000669.1:g.142459703C>T GRCh37
NC_000007.12:g.142139277C>T NCBI36
NG_008307.3:g.7369C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311737.12:c.279C>T (PRSS1) MANE Select ENSP00000308720.7:p.Ile93=
ENST00000311737.11:c.279C>T (PRSS1) ENSP00000308720.7:p.Ile93=
ENST00000463701.1:n.743C>T (PRSS1)
ENST00000485223.1:n.1277C>T (PRSS1)
ENST00000486171.5:c.321C>T (PRSS1) ENSP00000417854.1:p.Ile107=
ENST00000492062.1:c.129C>T (PRSS1) ENSP00000419912.1:p.Ile43=
ENST00000610416.2:c.370+30666C>T (TRBC1) ENSP00000482915.1:n.370+30666C>T
ENST00000612126.4:c.279C>T (PRSS1) ENSP00000479959.1:p.Ile93=
ENST00000619214.4:c.249C>T (PRSS1) ENSP00000481361.1:p.Ile83=
ENST00000633114.1:c.279C>T (PRSS2) ENSP00000487822.1:p.Ile93=
ENST00000634019.1:c.82+3061C>T (PRSS2) ENSP00000488594.1:n.82+3061C>T
NM_002769.4:c.279C>T (PRSS1) NP_002760.1:p.Ile93=
XM_011516411.1:c.954C>T (PRSS1) XP_011514713.1:p.Ile318=
NM_002769.5:c.279C>T (PRSS1) MANE Select NP_002760.1:p.Ile93=
NR_172947.1:n.221C>T (PRSS1)
NR_172948.1:n.218C>T (PRSS1)
NR_172949.1:n.218C>T (PRSS1)
NR_172950.1:n.132C>T (PRSS1)
NR_172951.1:n.140-74C>T (PRSS1)