Canonical Allele Identifier: CA369609493

Gene: PRSS1 TRBC1 PRSS2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142752462T>A , CM000669.2:g.142752462T>A	GRCh38
NC_000007.13:g.142460313T>A , CM000669.1:g.142460313T>A	GRCh37
NG_008307.3:g.7979T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002769.5:c.486T>A (PRSS1) MANE Select	NP_002760.1:p.Asp162Glu
ENST00000311737.12:c.486T>A (PRSS1) MANE Select	ENSP00000308720.7:p.Asp162Glu
NM_002769.4:c.486T>A (PRSS1)	NP_002760.1:p.Asp162Glu
NR_172947.1:n.428T>A (PRSS1)
NR_172948.1:n.425T>A (PRSS1)
NR_172949.1:n.425T>A (PRSS1)
NR_172950.1:n.339T>A (PRSS1)
NR_172951.1:n.273T>A (PRSS1)
ENST00000311737.11:c.486T>A (PRSS1)	ENSP00000308720.7:p.Asp162Glu
ENST00000463701.1:n.950T>A (PRSS1)
ENST00000486171.5:c.528T>A (PRSS1)	ENSP00000417854.1:p.Asp176Glu
ENST00000492062.1:c.336T>A (PRSS1)	ENSP00000419912.1:p.Asp112Glu
ENST00000610416.2:c.370+31276T>A (TRBC1)	ENSP00000482915.1:n.370+31276T>A
ENST00000612126.4:c.486T>A (PRSS1)	ENSP00000479959.1:p.Asp162Glu
ENST00000619214.4:c.456T>A (PRSS1)	ENSP00000481361.1:p.Asp152Glu
ENST00000633114.1:c.321+568T>A (PRSS2)	ENSP00000487822.1:n.321+568T>A
ENST00000634019.1:c.82+3671T>A (PRSS2)	ENSP00000488594.1:n.82+3671T>A
XM_011516411.1:c.1161T>A (PRSS1)	XP_011514713.1:p.Asp387Glu