Canonical Allele Identifier: CA4529578
Community Standard Title: NM_002769.5(PRSS1):c.4A>C (p.Asn2His)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142749488A>C , CM000669.2:g.142749488A>C GRCh38
NC_000007.13:g.142457339A>C , CM000669.1:g.142457339A>C GRCh37
NC_000007.12:g.142136913A>C NCBI36
NG_008307.3:g.5005A>C

Transcript Alleles

HGVS Amino-acid Change
NM_002769.5:c.4A>C (PRSS1) MANE Select NP_002760.1:p.Asn2His
ENST00000311737.12:c.4A>C (PRSS1) MANE Select ENSP00000308720.7:p.Asn2His
NM_002769.4:c.4A>C (PRSS1) NP_002760.1:p.Asn2His
NR_172947.1:n.17A>C (PRSS1)
NR_172948.1:n.17A>C (PRSS1)
NR_172949.1:n.17A>C (PRSS1)
NR_172950.1:n.17A>C (PRSS1)
NR_172951.1:n.17A>C (PRSS1)
ENST00000311737.11:c.4A>C (PRSS1) ENSP00000308720.7:p.Asn2His
ENST00000485223.1:n.17A>C (PRSS1)
ENST00000486171.5:c.4A>C (PRSS1) ENSP00000417854.1:p.Asn2His
ENST00000497041.1:n.8A>C (PRSS1)
ENST00000610416.2:c.370+28302A>C (TRBC1) ENSP00000482915.1:n.370+28302A>C
ENST00000612126.4:c.4A>C (PRSS1) ENSP00000479959.1:p.Asn2His
ENST00000619214.4:c.4A>C (PRSS1) ENSP00000481361.1:p.Asn2His
ENST00000633114.1:c.4A>C (PRSS2) ENSP00000487822.1:p.Asn2His
ENST00000634019.1:c.82+697A>C (PRSS2) ENSP00000488594.1:n.82+697A>C
XM_011516411.1:c.679A>C (PRSS1) XP_011514713.1:p.Asn227His