Canonical Allele Identifier: CA369608366

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142751783G>T , CM000669.2:g.142751783G>T GRCh38
NC_000007.13:g.142459634G>T , CM000669.1:g.142459634G>T GRCh37
NC_000007.12:g.142139208G>T NCBI36
NG_008307.3:g.7300G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311737.12:c.210G>T (PRSS1) MANE Select ENSP00000308720.7:p.Gln70His
ENST00000311737.11:c.210G>T (PRSS1) ENSP00000308720.7:p.Gln70His
ENST00000463701.1:n.674G>T (PRSS1)
ENST00000485223.1:n.1208G>T (PRSS1)
ENST00000486171.5:c.252G>T (PRSS1) ENSP00000417854.1:p.Gln84His
ENST00000492062.1:c.60G>T (PRSS1) ENSP00000419912.1:p.Gln20His
ENST00000610416.2:c.370+30597G>T (TRBC1) ENSP00000482915.1:n.370+30597G>T
ENST00000612126.4:c.210G>T (PRSS1) ENSP00000479959.1:p.Gln70His
ENST00000619214.4:c.210G>T (PRSS1) ENSP00000481361.1:p.Gln70His
ENST00000633114.1:c.210G>T (PRSS2) ENSP00000487822.1:p.Gln70His
ENST00000634019.1:c.82+2992G>T (PRSS2) ENSP00000488594.1:n.82+2992G>T
NM_002769.4:c.210G>T (PRSS1) NP_002760.1:p.Gln70His
XM_011516411.1:c.885G>T (PRSS1) XP_011514713.1:p.Gln295His
NM_002769.5:c.210G>T (PRSS1) MANE Select NP_002760.1:p.Gln70His
NR_172947.1:n.198-46G>T (PRSS1)
NR_172948.1:n.198-49G>T (PRSS1)
NR_172949.1:n.149G>T (PRSS1)
NR_172950.1:n.63G>T (PRSS1)
NR_172951.1:n.140-143G>T (PRSS1)