Canonical Allele Identifier: CA369608891

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142751923C>A , CM000669.2:g.142751923C>A GRCh38
NC_000007.13:g.142459774C>A , CM000669.1:g.142459774C>A GRCh37
NC_000007.12:g.142139348C>A NCBI36
NG_008307.3:g.7440C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311737.12:c.350C>A (PRSS1) MANE Select ENSP00000308720.7:p.Ala117Glu
ENST00000311737.11:c.350C>A (PRSS1) ENSP00000308720.7:p.Ala117Glu
ENST00000463701.1:n.814C>A (PRSS1)
ENST00000485223.1:n.1348C>A (PRSS1)
ENST00000486171.5:c.392C>A (PRSS1) ENSP00000417854.1:p.Ala131Glu
ENST00000492062.1:c.200C>A (PRSS1) ENSP00000419912.1:p.Ala67Glu
ENST00000610416.2:c.370+30737C>A (TRBC1) ENSP00000482915.1:n.370+30737C>A
ENST00000612126.4:c.350C>A (PRSS1) ENSP00000479959.1:p.Ala117Glu
ENST00000619214.4:c.320C>A (PRSS1) ENSP00000481361.1:p.Ala107Glu
ENST00000633114.1:c.321+29C>A (PRSS2) ENSP00000487822.1:n.321+29C>A
ENST00000634019.1:c.82+3132C>A (PRSS2) ENSP00000488594.1:n.82+3132C>A
NM_002769.4:c.350C>A (PRSS1) NP_002760.1:p.Ala117Glu
XM_011516411.1:c.1025C>A (PRSS1) XP_011514713.1:p.Ala342Glu
NM_002769.5:c.350C>A (PRSS1) MANE Select NP_002760.1:p.Ala117Glu
NR_172947.1:n.292C>A (PRSS1)
NR_172948.1:n.289C>A (PRSS1)
NR_172949.1:n.289C>A (PRSS1)
NR_172950.1:n.203C>A (PRSS1)
NR_172951.1:n.140-3C>A (PRSS1)