Canonical Allele Identifier: CA369608448

Linked Data

dbSNP Id: rs1798758229

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142751806T>A , CM000669.2:g.142751806T>A GRCh38
NC_000007.13:g.142459657T>A , CM000669.1:g.142459657T>A GRCh37
NC_000007.12:g.142139231T>A NCBI36
NG_008307.3:g.7323T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311737.12:c.233T>A (PRSS1) MANE Select ENSP00000308720.7:p.Ile78Asn
ENST00000311737.11:c.233T>A (PRSS1) ENSP00000308720.7:p.Ile78Asn
ENST00000463701.1:n.697T>A (PRSS1)
ENST00000485223.1:n.1231T>A (PRSS1)
ENST00000486171.5:c.275T>A (PRSS1) ENSP00000417854.1:p.Ile92Asn
ENST00000492062.1:c.83T>A (PRSS1) ENSP00000419912.1:p.Ile28Asn
ENST00000610416.2:c.370+30620T>A (TRBC1) ENSP00000482915.1:n.370+30620T>A
ENST00000612126.4:c.233T>A (PRSS1) ENSP00000479959.1:p.Ile78Asn
ENST00000619214.4:c.233T>A (PRSS1) ENSP00000481361.1:p.Ile78Asn
ENST00000633114.1:c.233T>A (PRSS2) ENSP00000487822.1:p.Ile78Asn
ENST00000634019.1:c.82+3015T>A (PRSS2) ENSP00000488594.1:n.82+3015T>A
NM_002769.4:c.233T>A (PRSS1) NP_002760.1:p.Ile78Asn
XM_011516411.1:c.908T>A (PRSS1) XP_011514713.1:p.Ile303Asn
NM_002769.5:c.233T>A (PRSS1) MANE Select NP_002760.1:p.Ile78Asn
NR_172947.1:n.198-23T>A (PRSS1)
NR_172948.1:n.198-26T>A (PRSS1)
NR_172949.1:n.172T>A (PRSS1)
NR_172950.1:n.86T>A (PRSS1)
NR_172951.1:n.140-120T>A (PRSS1)