Canonical Allele Identifier: CA4530017

Gene: PRSS1 TRBC1 PRSS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142752433G>A , CM000669.2:g.142752433G>A	GRCh38
NC_000007.13:g.142460284G>A , CM000669.1:g.142460284G>A	GRCh37
NC_000007.12:g.142139858G>A	NCBI36
NG_008307.3:g.7950G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002769.5:c.457G>A (PRSS1) MANE Select	NP_002760.1:p.Asp153Asn
ENST00000311737.12:c.457G>A (PRSS1) MANE Select	ENSP00000308720.7:p.Asp153Asn
NM_002769.4:c.457G>A (PRSS1)	NP_002760.1:p.Asp153Asn
NR_172947.1:n.399G>A (PRSS1)
NR_172948.1:n.396G>A (PRSS1)
NR_172949.1:n.396G>A (PRSS1)
NR_172950.1:n.310G>A (PRSS1)
NR_172951.1:n.244G>A (PRSS1)
ENST00000311737.11:c.457G>A (PRSS1)	ENSP00000308720.7:p.Asp153Asn
ENST00000463701.1:n.921G>A (PRSS1)
ENST00000486171.5:c.499G>A (PRSS1)	ENSP00000417854.1:p.Asp167Asn
ENST00000492062.1:c.307G>A (PRSS1)	ENSP00000419912.1:p.Asp103Asn
ENST00000610416.2:c.370+31247G>A (TRBC1)	ENSP00000482915.1:n.370+31247G>A
ENST00000612126.4:c.457G>A (PRSS1)	ENSP00000479959.1:p.Asp153Asn
ENST00000619214.4:c.427G>A (PRSS1)	ENSP00000481361.1:p.Asp143Asn
ENST00000633114.1:c.321+539G>A (PRSS2)	ENSP00000487822.1:n.321+539G>A
ENST00000634019.1:c.82+3642G>A (PRSS2)	ENSP00000488594.1:n.82+3642G>A
XM_011516411.1:c.1132G>A (PRSS1)	XP_011514713.1:p.Asp378Asn