Canonical Allele Identifier: CA369609177

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142752003T>A , CM000669.2:g.142752003T>A GRCh38
NC_000007.13:g.142459854T>A , CM000669.1:g.142459854T>A GRCh37
NC_000007.12:g.142139428T>A NCBI36
NG_008307.3:g.7520T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311737.12:c.430T>A (PRSS1) MANE Select ENSP00000308720.7:p.Trp144Arg
ENST00000311737.11:c.430T>A (PRSS1) ENSP00000308720.7:p.Trp144Arg
ENST00000463701.1:n.894T>A (PRSS1)
ENST00000485223.1:n.1428T>A (PRSS1)
ENST00000486171.5:c.472T>A (PRSS1) ENSP00000417854.1:p.Trp158Arg
ENST00000492062.1:c.280T>A (PRSS1) ENSP00000419912.1:p.Trp94Arg
ENST00000610416.2:c.370+30817T>A (TRBC1) ENSP00000482915.1:n.370+30817T>A
ENST00000612126.4:c.430T>A (PRSS1) ENSP00000479959.1:p.Trp144Arg
ENST00000619214.4:c.400T>A (PRSS1) ENSP00000481361.1:p.Trp134Arg
ENST00000633114.1:c.321+109T>A (PRSS2) ENSP00000487822.1:n.321+109T>A
ENST00000634019.1:c.82+3212T>A (PRSS2) ENSP00000488594.1:n.82+3212T>A
NM_002769.4:c.430T>A (PRSS1) NP_002760.1:p.Trp144Arg
XM_011516411.1:c.1105T>A (PRSS1) XP_011514713.1:p.Trp369Arg
NM_002769.5:c.430T>A (PRSS1) MANE Select NP_002760.1:p.Trp144Arg
NR_172947.1:n.372T>A (PRSS1)
NR_172948.1:n.369T>A (PRSS1)
NR_172949.1:n.369T>A (PRSS1)
NR_172950.1:n.283T>A (PRSS1)
NR_172951.1:n.217T>A (PRSS1)