Canonical Allele Identifier: CA369608764

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142751883C>A , CM000669.2:g.142751883C>A GRCh38
NC_000007.13:g.142459734C>A , CM000669.1:g.142459734C>A GRCh37
NC_000007.12:g.142139308C>A NCBI36
NG_008307.3:g.7400C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311737.12:c.310C>A (PRSS1) MANE Select ENSP00000308720.7:p.Leu104Met
ENST00000311737.11:c.310C>A (PRSS1) ENSP00000308720.7:p.Leu104Met
ENST00000463701.1:n.774C>A (PRSS1)
ENST00000485223.1:n.1308C>A (PRSS1)
ENST00000486171.5:c.352C>A (PRSS1) ENSP00000417854.1:p.Leu118Met
ENST00000492062.1:c.160C>A (PRSS1) ENSP00000419912.1:p.Leu54Met
ENST00000610416.2:c.370+30697C>A (TRBC1) ENSP00000482915.1:n.370+30697C>A
ENST00000612126.4:c.310C>A (PRSS1) ENSP00000479959.1:p.Leu104Met
ENST00000619214.4:c.280C>A (PRSS1) ENSP00000481361.1:p.Leu94Met
ENST00000633114.1:c.310C>A (PRSS2) ENSP00000487822.1:p.Leu104Met
ENST00000634019.1:c.82+3092C>A (PRSS2) ENSP00000488594.1:n.82+3092C>A
NM_002769.4:c.310C>A (PRSS1) NP_002760.1:p.Leu104Met
XM_011516411.1:c.985C>A (PRSS1) XP_011514713.1:p.Leu329Met
NM_002769.5:c.310C>A (PRSS1) MANE Select NP_002760.1:p.Leu104Met
NR_172947.1:n.252C>A (PRSS1)
NR_172948.1:n.249C>A (PRSS1)
NR_172949.1:n.249C>A (PRSS1)
NR_172950.1:n.163C>A (PRSS1)
NR_172951.1:n.140-43C>A (PRSS1)