Canonical Allele Identifier: CA2685341709

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142750425G>T , CM000669.2:g.142750425G>T GRCh38
NC_000007.13:g.142458276G>T , CM000669.1:g.142458276G>T GRCh37
NC_000007.12:g.142137850G>T NCBI36
NG_008307.3:g.5942G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311737.12:c.41-130G>T (PRSS1) MANE Select ENSP00000308720.7:n.41-130G>T
ENST00000311737.11:c.41-130G>T (PRSS1) ENSP00000308720.7:n.41-130G>T
ENST00000485223.1:n.54-204G>T (PRSS1)
ENST00000486171.5:c.41-130G>T (PRSS1) ENSP00000417854.1:n.41-130G>T
ENST00000497041.1:n.45-130G>T (PRSS1)
ENST00000610416.2:c.370+29239G>T (TRBC1) ENSP00000482915.1:n.370+29239G>T
ENST00000612126.4:c.41-130G>T (PRSS1) ENSP00000479959.1:n.41-130G>T
ENST00000619214.4:c.41-130G>T (PRSS1) ENSP00000481361.1:n.41-130G>T
ENST00000633114.1:c.41-130G>T (PRSS2) ENSP00000487822.1:n.41-130G>T
ENST00000634019.1:c.82+1634G>T (PRSS2) ENSP00000488594.1:n.82+1634G>T
NM_002769.4:c.41-130G>T (PRSS1) NP_002760.1:n.41-130G>T
XM_011516411.1:c.716-130G>T (PRSS1) XP_011514713.1:n.716-130G>T
NM_002769.5:c.41-130G>T (PRSS1) MANE Select NP_002760.1:n.41-130G>T
NR_172947.1:n.54-130G>T (PRSS1)
NR_172948.1:n.54-130G>T (PRSS1)
NR_172949.1:n.54-204G>T (PRSS1)
NR_172950.1:n.53+901G>T (PRSS1)
NR_172951.1:n.54-204G>T (PRSS1)