Canonical Allele Identifier: CA369609128

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142751990C>G , CM000669.2:g.142751990C>G GRCh38
NC_000007.13:g.142459841C>G , CM000669.1:g.142459841C>G GRCh37
NC_000007.12:g.142139415C>G NCBI36
NG_008307.3:g.7507C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000311737.12:c.417C>G (PRSS1) MANE Select ENSP00000308720.7:p.Cys139Trp
ENST00000311737.11:c.417C>G (PRSS1) ENSP00000308720.7:p.Cys139Trp
ENST00000463701.1:n.881C>G (PRSS1)
ENST00000485223.1:n.1415C>G (PRSS1)
ENST00000486171.5:c.459C>G (PRSS1) ENSP00000417854.1:p.Cys153Trp
ENST00000492062.1:c.267C>G (PRSS1) ENSP00000419912.1:p.Cys89Trp
ENST00000610416.2:c.370+30804C>G (TRBC1) ENSP00000482915.1:n.370+30804C>G
ENST00000612126.4:c.417C>G (PRSS1) ENSP00000479959.1:p.Cys139Trp
ENST00000619214.4:c.387C>G (PRSS1) ENSP00000481361.1:p.Cys129Trp
ENST00000633114.1:c.321+96C>G (PRSS2) ENSP00000487822.1:n.321+96C>G
ENST00000634019.1:c.82+3199C>G (PRSS2) ENSP00000488594.1:n.82+3199C>G
NM_002769.4:c.417C>G (PRSS1) NP_002760.1:p.Cys139Trp
XM_011516411.1:c.1092C>G (PRSS1) XP_011514713.1:p.Cys364Trp
NM_002769.5:c.417C>G (PRSS1) MANE Select NP_002760.1:p.Cys139Trp
NR_172947.1:n.359C>G (PRSS1)
NR_172948.1:n.356C>G (PRSS1)
NR_172949.1:n.356C>G (PRSS1)
NR_172950.1:n.270C>G (PRSS1)
NR_172951.1:n.204C>G (PRSS1)