Canonical Allele Identifier: CA369609246

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142752019G>T , CM000669.2:g.142752019G>T GRCh38
NC_000007.13:g.142459870G>T , CM000669.1:g.142459870G>T GRCh37
NC_000007.12:g.142139444G>T NCBI36
NG_008307.3:g.7536G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311737.12:c.446G>T (PRSS1) MANE Select ENSP00000308720.7:p.Ser149Ile
ENST00000311737.11:c.446G>T (PRSS1) ENSP00000308720.7:p.Ser149Ile
ENST00000463701.1:n.910G>T (PRSS1)
ENST00000486171.5:c.488G>T (PRSS1) ENSP00000417854.1:p.Ser163Ile
ENST00000492062.1:c.296G>T (PRSS1) ENSP00000419912.1:p.Ser99Ile
ENST00000610416.2:c.370+30833G>T (TRBC1) ENSP00000482915.1:n.370+30833G>T
ENST00000612126.4:c.446G>T (PRSS1) ENSP00000479959.1:p.Ser149Ile
ENST00000619214.4:c.416G>T (PRSS1) ENSP00000481361.1:p.Ser139Ile
ENST00000633114.1:c.321+125G>T (PRSS2) ENSP00000487822.1:n.321+125G>T
ENST00000634019.1:c.82+3228G>T (PRSS2) ENSP00000488594.1:n.82+3228G>T
NM_002769.4:c.446G>T (PRSS1) NP_002760.1:p.Ser149Ile
XM_011516411.1:c.1121G>T (PRSS1) XP_011514713.1:p.Ser374Ile
NM_002769.5:c.446G>T (PRSS1) MANE Select NP_002760.1:p.Ser149Ile
NR_172947.1:n.388G>T (PRSS1)
NR_172948.1:n.385G>T (PRSS1)
NR_172949.1:n.385G>T (PRSS1)
NR_172950.1:n.299G>T (PRSS1)
NR_172951.1:n.233G>T (PRSS1)