Canonical Allele Identifier: CA4529593

Gene: PRSS1 TRBC1 PRSS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142749524C>G , CM000669.2:g.142749524C>G	GRCh38
NC_000007.13:g.142457375C>G , CM000669.1:g.142457375C>G	GRCh37
NC_000007.12:g.142136949C>G	NCBI36
NG_008307.3:g.5041C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002769.5:c.40C>G (PRSS1) MANE Select	NP_002760.1:p.Leu14Val
ENST00000311737.12:c.40C>G (PRSS1) MANE Select	ENSP00000308720.7:p.Leu14Val
NM_002769.4:c.40C>G (PRSS1)	NP_002760.1:p.Leu14Val
NR_172947.1:n.53C>G (PRSS1)
NR_172948.1:n.53C>G (PRSS1)
NR_172949.1:n.53C>G (PRSS1)
NR_172950.1:n.53C>G (PRSS1)
NR_172951.1:n.53C>G (PRSS1)
ENST00000311737.11:c.40C>G (PRSS1)	ENSP00000308720.7:p.Leu14Val
ENST00000485223.1:n.53C>G (PRSS1)
ENST00000486171.5:c.40C>G (PRSS1)	ENSP00000417854.1:p.Leu14Val
ENST00000497041.1:n.44C>G (PRSS1)
ENST00000610416.2:c.370+28338C>G (TRBC1)	ENSP00000482915.1:n.370+28338C>G
ENST00000612126.4:c.40C>G (PRSS1)	ENSP00000479959.1:p.Leu14Val
ENST00000619214.4:c.40C>G (PRSS1)	ENSP00000481361.1:p.Leu14Val
ENST00000633114.1:c.40C>G (PRSS2)	ENSP00000487822.1:p.Leu14Val
ENST00000634019.1:c.82+733C>G (PRSS2)	ENSP00000488594.1:n.82+733C>G
XM_011516411.1:c.715C>G (PRSS1)	XP_011514713.1:p.Leu239Val