Canonical Allele Identifier: CA458523909

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• ClinVar Variation Id: 3222791
• ClinVar RCV Id: RCV004516175
• gnomAD v4: 7-142750694-A-G
• MyVariant Identifiers: chr7:g.142458545A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142750694A>G , CM000669.2:g.142750694A>G	GRCh38
NC_000007.13:g.142458545A>G , CM000669.1:g.142458545A>G	GRCh37
NC_000007.12:g.142138119A>G	NCBI36
NG_008307.3:g.6211A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.180A>G (PRSS1) MANE Select	ENSP00000308720.7:p.Ser60=
ENST00000311737.11:c.180A>G (PRSS1)	ENSP00000308720.7:p.Ser60=
ENST00000485223.1:n.119A>G (PRSS1)
ENST00000486171.5:c.180A>G (PRSS1)	ENSP00000417854.1:p.Ser60=
ENST00000492062.1:c.30A>G (PRSS1)	ENSP00000419912.1:p.Ser10=
ENST00000497041.1:n.184A>G (PRSS1)
ENST00000610416.2:c.370+29508A>G (TRBC1)	ENSP00000482915.1:n.370+29508A>G
ENST00000612126.4:c.180A>G (PRSS1)	ENSP00000479959.1:p.Ser60=
ENST00000619214.4:c.180A>G (PRSS1)	ENSP00000481361.1:p.Ser60=
ENST00000633114.1:c.180A>G (PRSS2)	ENSP00000487822.1:p.Ser60=
ENST00000634019.1:c.82+1903A>G (PRSS2)	ENSP00000488594.1:n.82+1903A>G
NM_002769.4:c.180A>G (PRSS1)	NP_002760.1:p.Ser60=
XM_011516411.1:c.855A>G (PRSS1)	XP_011514713.1:p.Ser285=
NM_002769.5:c.180A>G (PRSS1) MANE Select	NP_002760.1:p.Ser60=
NR_172947.1:n.193A>G (PRSS1)
NR_172948.1:n.193A>G (PRSS1)
NR_172949.1:n.119A>G (PRSS1)
NR_172950.1:n.54-1080A>G (PRSS1)
NR_172951.1:n.119A>G (PRSS1)