Canonical Allele Identifier: CA369609542

Gene: PRSS1 TRBC1 PRSS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142752476G>C , CM000669.2:g.142752476G>C	GRCh38
NC_000007.13:g.142460327G>C , CM000669.1:g.142460327G>C	GRCh37
NC_000007.12:g.142139901G>C	NCBI36
NG_008307.3:g.7993G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002769.5:c.500G>C (PRSS1) MANE Select	NP_002760.1:p.Ser167Thr
ENST00000311737.12:c.500G>C (PRSS1) MANE Select	ENSP00000308720.7:p.Ser167Thr
NM_002769.4:c.500G>C (PRSS1)	NP_002760.1:p.Ser167Thr
NR_172947.1:n.442G>C (PRSS1)
NR_172948.1:n.439G>C (PRSS1)
NR_172949.1:n.439G>C (PRSS1)
NR_172950.1:n.353G>C (PRSS1)
NR_172951.1:n.287G>C (PRSS1)
ENST00000311737.11:c.500G>C (PRSS1)	ENSP00000308720.7:p.Ser167Thr
ENST00000463701.1:n.964G>C (PRSS1)
ENST00000486171.5:c.542G>C (PRSS1)	ENSP00000417854.1:p.Ser181Thr
ENST00000492062.1:c.350G>C (PRSS1)	ENSP00000419912.1:p.Ser117Thr
ENST00000610416.2:c.370+31290G>C (TRBC1)	ENSP00000482915.1:n.370+31290G>C
ENST00000612126.4:c.500G>C (PRSS1)	ENSP00000479959.1:p.Ser167Thr
ENST00000619214.4:c.470G>C (PRSS1)	ENSP00000481361.1:p.Ser157Thr
ENST00000633114.1:c.321+582G>C (PRSS2)	ENSP00000487822.1:n.321+582G>C
ENST00000634019.1:c.82+3685G>C (PRSS2)	ENSP00000488594.1:n.82+3685G>C
XM_011516411.1:c.1175G>C (PRSS1)	XP_011514713.1:p.Ser392Thr