Canonical Allele Identifier: CA369608913

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142751929T>A , CM000669.2:g.142751929T>A GRCh38
NC_000007.13:g.142459780T>A , CM000669.1:g.142459780T>A GRCh37
NC_000007.12:g.142139354T>A NCBI36
NG_008307.3:g.7446T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311737.12:c.356T>A (PRSS1) MANE Select ENSP00000308720.7:p.Ile119Asn
ENST00000311737.11:c.356T>A (PRSS1) ENSP00000308720.7:p.Ile119Asn
ENST00000463701.1:n.820T>A (PRSS1)
ENST00000485223.1:n.1354T>A (PRSS1)
ENST00000486171.5:c.398T>A (PRSS1) ENSP00000417854.1:p.Ile133Asn
ENST00000492062.1:c.206T>A (PRSS1) ENSP00000419912.1:p.Ile69Asn
ENST00000610416.2:c.370+30743T>A (TRBC1) ENSP00000482915.1:n.370+30743T>A
ENST00000612126.4:c.356T>A (PRSS1) ENSP00000479959.1:p.Ile119Asn
ENST00000619214.4:c.326T>A (PRSS1) ENSP00000481361.1:p.Ile109Asn
ENST00000633114.1:c.321+35T>A (PRSS2) ENSP00000487822.1:n.321+35T>A
ENST00000634019.1:c.82+3138T>A (PRSS2) ENSP00000488594.1:n.82+3138T>A
NM_002769.4:c.356T>A (PRSS1) NP_002760.1:p.Ile119Asn
XM_011516411.1:c.1031T>A (PRSS1) XP_011514713.1:p.Ile344Asn
NM_002769.5:c.356T>A (PRSS1) MANE Select NP_002760.1:p.Ile119Asn
NR_172947.1:n.298T>A (PRSS1)
NR_172948.1:n.295T>A (PRSS1)
NR_172949.1:n.295T>A (PRSS1)
NR_172950.1:n.209T>A (PRSS1)
NR_172951.1:n.143T>A (PRSS1)