Canonical Allele Identifier: CA4529914
Community Standard Title: NM_002769.5(PRSS1):c.298G>A (p.Asp100Asn)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142751871G>A , CM000669.2:g.142751871G>A GRCh38
NC_000007.13:g.142459722G>A , CM000669.1:g.142459722G>A GRCh37
NC_000007.12:g.142139296G>A NCBI36
NG_008307.3:g.7388G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002769.5:c.298G>A (PRSS1) MANE Select NP_002760.1:p.Asp100Asn
ENST00000311737.12:c.298G>A (PRSS1) MANE Select ENSP00000308720.7:p.Asp100Asn
NM_002769.4:c.298G>A (PRSS1) NP_002760.1:p.Asp100Asn
NR_172947.1:n.240G>A (PRSS1)
NR_172948.1:n.237G>A (PRSS1)
NR_172949.1:n.237G>A (PRSS1)
NR_172950.1:n.151G>A (PRSS1)
NR_172951.1:n.140-55G>A (PRSS1)
ENST00000311737.11:c.298G>A (PRSS1) ENSP00000308720.7:p.Asp100Asn
ENST00000463701.1:n.762G>A (PRSS1)
ENST00000485223.1:n.1296G>A (PRSS1)
ENST00000486171.5:c.340G>A (PRSS1) ENSP00000417854.1:p.Asp114Asn
ENST00000492062.1:c.148G>A (PRSS1) ENSP00000419912.1:p.Asp50Asn
ENST00000610416.2:c.370+30685G>A (TRBC1) ENSP00000482915.1:n.370+30685G>A
ENST00000612126.4:c.298G>A (PRSS1) ENSP00000479959.1:p.Asp100Asn
ENST00000619214.4:c.268G>A (PRSS1) ENSP00000481361.1:p.Asp90Asn
ENST00000633114.1:c.298G>A (PRSS2) ENSP00000487822.1:p.Asp100Asn
ENST00000634019.1:c.82+3080G>A (PRSS2) ENSP00000488594.1:n.82+3080G>A
XM_011516411.1:c.973G>A (PRSS1) XP_011514713.1:p.Asp325Asn