Canonical Allele Identifier: CA369608362

Linked Data

dbSNP Id: rs1798756230

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142751782A>T , CM000669.2:g.142751782A>T GRCh38
NC_000007.13:g.142459633A>T , CM000669.1:g.142459633A>T GRCh37
NC_000007.12:g.142139207A>T NCBI36
NG_008307.3:g.7299A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311737.12:c.209A>T (PRSS1) MANE Select ENSP00000308720.7:p.Gln70Leu
ENST00000311737.11:c.209A>T (PRSS1) ENSP00000308720.7:p.Gln70Leu
ENST00000463701.1:n.673A>T (PRSS1)
ENST00000485223.1:n.1207A>T (PRSS1)
ENST00000486171.5:c.251A>T (PRSS1) ENSP00000417854.1:p.Gln84Leu
ENST00000492062.1:c.59A>T (PRSS1) ENSP00000419912.1:p.Gln20Leu
ENST00000610416.2:c.370+30596A>T (TRBC1) ENSP00000482915.1:n.370+30596A>T
ENST00000612126.4:c.209A>T (PRSS1) ENSP00000479959.1:p.Gln70Leu
ENST00000619214.4:c.209A>T (PRSS1) ENSP00000481361.1:p.Gln70Leu
ENST00000633114.1:c.209A>T (PRSS2) ENSP00000487822.1:p.Gln70Leu
ENST00000634019.1:c.82+2991A>T (PRSS2) ENSP00000488594.1:n.82+2991A>T
NM_002769.4:c.209A>T (PRSS1) NP_002760.1:p.Gln70Leu
XM_011516411.1:c.884A>T (PRSS1) XP_011514713.1:p.Gln295Leu
NM_002769.5:c.209A>T (PRSS1) MANE Select NP_002760.1:p.Gln70Leu
NR_172947.1:n.198-47A>T (PRSS1)
NR_172948.1:n.198-50A>T (PRSS1)
NR_172949.1:n.148A>T (PRSS1)
NR_172950.1:n.62A>T (PRSS1)
NR_172951.1:n.140-144A>T (PRSS1)