Canonical Allele Identifier: CA369609419
Community Standard Title: NM_002769.5(PRSS1):c.468C>A (p.Asp156Glu)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142752444C>A , CM000669.2:g.142752444C>A GRCh38
NC_000007.13:g.142460295C>A , CM000669.1:g.142460295C>A GRCh37
NC_000007.12:g.142139869C>A NCBI36
NG_008307.3:g.7961C>A

Transcript Alleles

HGVS Amino-acid Change
NM_002769.5:c.468C>A (PRSS1) MANE Select NP_002760.1:p.Asp156Glu
ENST00000311737.12:c.468C>A (PRSS1) MANE Select ENSP00000308720.7:p.Asp156Glu
NM_002769.4:c.468C>A (PRSS1) NP_002760.1:p.Asp156Glu
NR_172947.1:n.410C>A (PRSS1)
NR_172948.1:n.407C>A (PRSS1)
NR_172949.1:n.407C>A (PRSS1)
NR_172950.1:n.321C>A (PRSS1)
NR_172951.1:n.255C>A (PRSS1)
ENST00000311737.11:c.468C>A (PRSS1) ENSP00000308720.7:p.Asp156Glu
ENST00000463701.1:n.932C>A (PRSS1)
ENST00000486171.5:c.510C>A (PRSS1) ENSP00000417854.1:p.Asp170Glu
ENST00000492062.1:c.318C>A (PRSS1) ENSP00000419912.1:p.Asp106Glu
ENST00000610416.2:c.370+31258C>A (TRBC1) ENSP00000482915.1:n.370+31258C>A
ENST00000612126.4:c.468C>A (PRSS1) ENSP00000479959.1:p.Asp156Glu
ENST00000619214.4:c.438C>A (PRSS1) ENSP00000481361.1:p.Asp146Glu
ENST00000633114.1:c.321+550C>A (PRSS2) ENSP00000487822.1:n.321+550C>A
ENST00000634019.1:c.82+3653C>A (PRSS2) ENSP00000488594.1:n.82+3653C>A
XM_011516411.1:c.1143C>A (PRSS1) XP_011514713.1:p.Asp381Glu