Canonical Allele Identifier: CA4530148
Community Standard Title: NM_002769.5(PRSS1):c.721A>G (p.Asn241Asp)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142752997A>G , CM000669.2:g.142752997A>G GRCh38
NC_000007.13:g.142460848A>G , CM000669.1:g.142460848A>G GRCh37
NC_000007.12:g.142140422A>G NCBI36
NG_008307.3:g.8514A>G

Transcript Alleles

HGVS Amino-acid Change
NM_002769.5:c.721A>G (PRSS1) MANE Select NP_002760.1:p.Asn241Asp
ENST00000311737.12:c.721A>G (PRSS1) MANE Select ENSP00000308720.7:p.Asn241Asp
NM_002769.4:c.721A>G (PRSS1) NP_002760.1:p.Asn241Asp
NR_172947.1:n.663A>G (PRSS1)
NR_172948.1:n.660A>G (PRSS1)
NR_172949.1:n.660A>G (PRSS1)
NR_172950.1:n.574A>G (PRSS1)
NR_172951.1:n.508A>G (PRSS1)
ENST00000311737.11:c.721A>G (PRSS1) ENSP00000308720.7:p.Asn241Asp
ENST00000463701.1:n.1185A>G (PRSS1)
ENST00000486171.5:c.763A>G (PRSS1) ENSP00000417854.1:p.Asn255Asp
ENST00000492062.1:c.554A>G (PRSS1) ENSP00000419912.1:n.554A>G
ENST00000610416.2:c.370+31811A>G (TRBC1) ENSP00000482915.1:n.370+31811A>G
ENST00000612126.4:c.591+430A>G (PRSS1) ENSP00000479959.1:n.591+430A>G
ENST00000619214.4:c.691A>G (PRSS1) ENSP00000481361.1:p.Asn231Asp
ENST00000633114.1:c.321+1103A>G (PRSS2) ENSP00000487822.1:n.321+1103A>G
ENST00000634019.1:c.82+4206A>G (PRSS2) ENSP00000488594.1:n.82+4206A>G
XM_011516411.1:c.1396A>G (PRSS1) XP_011514713.1:p.Asn466Asp