Canonical Allele Identifier: CA369608391

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• MyVariant Identifiers: chr7:g.142459642T>G (hg19) ; chr7:g.142751791T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142751791T>G , CM000669.2:g.142751791T>G	GRCh38
NC_000007.13:g.142459642T>G , CM000669.1:g.142459642T>G	GRCh37
NC_000007.12:g.142139216T>G	NCBI36
NG_008307.3:g.7308T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.218T>G (PRSS1) MANE Select	ENSP00000308720.7:p.Leu73Arg
ENST00000311737.11:c.218T>G (PRSS1)	ENSP00000308720.7:p.Leu73Arg
ENST00000463701.1:n.682T>G (PRSS1)
ENST00000485223.1:n.1216T>G (PRSS1)
ENST00000486171.5:c.260T>G (PRSS1)	ENSP00000417854.1:p.Leu87Arg
ENST00000492062.1:c.68T>G (PRSS1)	ENSP00000419912.1:p.Leu23Arg
ENST00000610416.2:c.370+30605T>G (TRBC1)	ENSP00000482915.1:n.370+30605T>G
ENST00000612126.4:c.218T>G (PRSS1)	ENSP00000479959.1:p.Leu73Arg
ENST00000619214.4:c.218T>G (PRSS1)	ENSP00000481361.1:p.Leu73Arg
ENST00000633114.1:c.218T>G (PRSS2)	ENSP00000487822.1:p.Leu73Arg
ENST00000634019.1:c.82+3000T>G (PRSS2)	ENSP00000488594.1:n.82+3000T>G
NM_002769.4:c.218T>G (PRSS1)	NP_002760.1:p.Leu73Arg
XM_011516411.1:c.893T>G (PRSS1)	XP_011514713.1:p.Leu298Arg
NM_002769.5:c.218T>G (PRSS1) MANE Select	NP_002760.1:p.Leu73Arg
NR_172947.1:n.198-38T>G (PRSS1)
NR_172948.1:n.198-41T>G (PRSS1)
NR_172949.1:n.157T>G (PRSS1)
NR_172950.1:n.71T>G (PRSS1)
NR_172951.1:n.140-135T>G (PRSS1)