Canonical Allele Identifier: CA2842565667

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142750463G>T , CM000669.2:g.142750463G>T GRCh38
NC_000007.13:g.142458314G>T , CM000669.1:g.142458314G>T GRCh37
NC_000007.12:g.142137888G>T NCBI36
NG_008307.3:g.5980G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311737.12:c.41-92G>T (PRSS1) MANE Select ENSP00000308720.7:n.41-92G>T
ENST00000311737.11:c.41-92G>T (PRSS1) ENSP00000308720.7:n.41-92G>T
ENST00000485223.1:n.54-166G>T (PRSS1)
ENST00000486171.5:c.41-92G>T (PRSS1) ENSP00000417854.1:n.41-92G>T
ENST00000497041.1:n.45-92G>T (PRSS1)
ENST00000610416.2:c.370+29277G>T (TRBC1) ENSP00000482915.1:n.370+29277G>T
ENST00000612126.4:c.41-92G>T (PRSS1) ENSP00000479959.1:n.41-92G>T
ENST00000619214.4:c.41-92G>T (PRSS1) ENSP00000481361.1:n.41-92G>T
ENST00000633114.1:c.41-92G>T (PRSS2) ENSP00000487822.1:n.41-92G>T
ENST00000634019.1:c.82+1672G>T (PRSS2) ENSP00000488594.1:n.82+1672G>T
NM_002769.4:c.41-92G>T (PRSS1) NP_002760.1:n.41-92G>T
XM_011516411.1:c.716-92G>T (PRSS1) XP_011514713.1:n.716-92G>T
NM_002769.5:c.41-92G>T (PRSS1) MANE Select NP_002760.1:n.41-92G>T
NR_172947.1:n.54-92G>T (PRSS1)
NR_172948.1:n.54-92G>T (PRSS1)
NR_172949.1:n.54-166G>T (PRSS1)
NR_172950.1:n.53+939G>T (PRSS1)
NR_172951.1:n.54-166G>T (PRSS1)