Canonical Allele Identifier: CA369608517

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• COSMIC: COSM5514420
• MyVariant Identifiers: chr7:g.142459674A>G (hg19) ; chr7:g.142751823A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142751823A>G , CM000669.2:g.142751823A>G	GRCh38
NC_000007.13:g.142459674A>G , CM000669.1:g.142459674A>G	GRCh37
NC_000007.12:g.142139248A>G	NCBI36
NG_008307.3:g.7340A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.250A>G (PRSS1) MANE Select	ENSP00000308720.7:p.Asn84Asp
ENST00000311737.11:c.250A>G (PRSS1)	ENSP00000308720.7:p.Asn84Asp
ENST00000463701.1:n.714A>G (PRSS1)
ENST00000485223.1:n.1248A>G (PRSS1)
ENST00000486171.5:c.292A>G (PRSS1)	ENSP00000417854.1:p.Asn98Asp
ENST00000492062.1:c.100A>G (PRSS1)	ENSP00000419912.1:p.Asn34Asp
ENST00000610416.2:c.370+30637A>G (TRBC1)	ENSP00000482915.1:n.370+30637A>G
ENST00000612126.4:c.250A>G (PRSS1)	ENSP00000479959.1:p.Asn84Asp
ENST00000619214.4:c.234-14A>G (PRSS1)	ENSP00000481361.1:n.234-14A>G
ENST00000633114.1:c.250A>G (PRSS2)	ENSP00000487822.1:p.Asn84Asp
ENST00000634019.1:c.82+3032A>G (PRSS2)	ENSP00000488594.1:n.82+3032A>G
NM_002769.4:c.250A>G (PRSS1)	NP_002760.1:p.Asn84Asp
XM_011516411.1:c.925A>G (PRSS1)	XP_011514713.1:p.Asn309Asp
NM_002769.5:c.250A>G (PRSS1) MANE Select	NP_002760.1:p.Asn84Asp
NR_172947.1:n.198-6A>G (PRSS1)
NR_172948.1:n.198-9A>G (PRSS1)
NR_172949.1:n.189A>G (PRSS1)
NR_172950.1:n.103A>G (PRSS1)
NR_172951.1:n.140-103A>G (PRSS1)