Canonical Allele Identifier: CA369608962

Linked Data

dbSNP Id: rs1798774940

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142751941T>C , CM000669.2:g.142751941T>C GRCh38
NC_000007.13:g.142459792T>C , CM000669.1:g.142459792T>C GRCh37
NC_000007.12:g.142139366T>C NCBI36
NG_008307.3:g.7458T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311737.12:c.368T>C (PRSS1) MANE Select ENSP00000308720.7:p.Val123Ala
ENST00000311737.11:c.368T>C (PRSS1) ENSP00000308720.7:p.Val123Ala
ENST00000463701.1:n.832T>C (PRSS1)
ENST00000485223.1:n.1366T>C (PRSS1)
ENST00000486171.5:c.410T>C (PRSS1) ENSP00000417854.1:p.Val137Ala
ENST00000492062.1:c.218T>C (PRSS1) ENSP00000419912.1:p.Val73Ala
ENST00000610416.2:c.370+30755T>C (TRBC1) ENSP00000482915.1:n.370+30755T>C
ENST00000612126.4:c.368T>C (PRSS1) ENSP00000479959.1:p.Val123Ala
ENST00000619214.4:c.338T>C (PRSS1) ENSP00000481361.1:p.Val113Ala
ENST00000633114.1:c.321+47T>C (PRSS2) ENSP00000487822.1:n.321+47T>C
ENST00000634019.1:c.82+3150T>C (PRSS2) ENSP00000488594.1:n.82+3150T>C
NM_002769.4:c.368T>C (PRSS1) NP_002760.1:p.Val123Ala
XM_011516411.1:c.1043T>C (PRSS1) XP_011514713.1:p.Val348Ala
NM_002769.5:c.368T>C (PRSS1) MANE Select NP_002760.1:p.Val123Ala
NR_172947.1:n.310T>C (PRSS1)
NR_172948.1:n.307T>C (PRSS1)
NR_172949.1:n.307T>C (PRSS1)
NR_172950.1:n.221T>C (PRSS1)
NR_172951.1:n.155T>C (PRSS1)