Canonical Allele Identifier: CA369609211

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142752010A>C , CM000669.2:g.142752010A>C GRCh38
NC_000007.13:g.142459861A>C , CM000669.1:g.142459861A>C GRCh37
NC_000007.12:g.142139435A>C NCBI36
NG_008307.3:g.7527A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311737.12:c.437A>C (PRSS1) MANE Select ENSP00000308720.7:p.Asn146Thr
ENST00000311737.11:c.437A>C (PRSS1) ENSP00000308720.7:p.Asn146Thr
ENST00000463701.1:n.901A>C (PRSS1)
ENST00000486171.5:c.479A>C (PRSS1) ENSP00000417854.1:p.Asn160Thr
ENST00000492062.1:c.287A>C (PRSS1) ENSP00000419912.1:p.Asn96Thr
ENST00000610416.2:c.370+30824A>C (TRBC1) ENSP00000482915.1:n.370+30824A>C
ENST00000612126.4:c.437A>C (PRSS1) ENSP00000479959.1:p.Asn146Thr
ENST00000619214.4:c.407A>C (PRSS1) ENSP00000481361.1:p.Asn136Thr
ENST00000633114.1:c.321+116A>C (PRSS2) ENSP00000487822.1:n.321+116A>C
ENST00000634019.1:c.82+3219A>C (PRSS2) ENSP00000488594.1:n.82+3219A>C
NM_002769.4:c.437A>C (PRSS1) NP_002760.1:p.Asn146Thr
XM_011516411.1:c.1112A>C (PRSS1) XP_011514713.1:p.Asn371Thr
NM_002769.5:c.437A>C (PRSS1) MANE Select NP_002760.1:p.Asn146Thr
NR_172947.1:n.379A>C (PRSS1)
NR_172948.1:n.376A>C (PRSS1)
NR_172949.1:n.376A>C (PRSS1)
NR_172950.1:n.290A>C (PRSS1)
NR_172951.1:n.224A>C (PRSS1)