Canonical Allele Identifier: CA369608342

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• ClinVar Variation Id: 1785360
• ClinVar RCV Id: RCV002422109
• dbSNP Id: rs1237210606
• gnomAD v2: 7-142459630-T-A
• gnomAD v4: 7-142751779-T-A
• MyVariant Identifiers: chr7:g.142459630T>A (hg19) ; chr7:g.142751779T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142751779T>A , CM000669.2:g.142751779T>A	GRCh38
NC_000007.13:g.142459630T>A , CM000669.1:g.142459630T>A	GRCh37
NC_000007.12:g.142139204T>A	NCBI36
NG_008307.3:g.7296T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.206T>A (PRSS1) MANE Select	ENSP00000308720.7:p.Ile69Asn
ENST00000311737.11:c.206T>A (PRSS1)	ENSP00000308720.7:p.Ile69Asn
ENST00000463701.1:n.670T>A (PRSS1)
ENST00000485223.1:n.1204T>A (PRSS1)
ENST00000486171.5:c.248T>A (PRSS1)	ENSP00000417854.1:p.Ile83Asn
ENST00000492062.1:c.56T>A (PRSS1)	ENSP00000419912.1:p.Ile19Asn
ENST00000610416.2:c.370+30593T>A (TRBC1)	ENSP00000482915.1:n.370+30593T>A
ENST00000612126.4:c.206T>A (PRSS1)	ENSP00000479959.1:p.Ile69Asn
ENST00000619214.4:c.206T>A (PRSS1)	ENSP00000481361.1:p.Ile69Asn
ENST00000633114.1:c.206T>A (PRSS2)	ENSP00000487822.1:p.Ile69Asn
ENST00000634019.1:c.82+2988T>A (PRSS2)	ENSP00000488594.1:n.82+2988T>A
NM_002769.4:c.206T>A (PRSS1)	NP_002760.1:p.Ile69Asn
XM_011516411.1:c.881T>A (PRSS1)	XP_011514713.1:p.Ile294Asn
NM_002769.5:c.206T>A (PRSS1) MANE Select	NP_002760.1:p.Ile69Asn
NR_172947.1:n.198-50T>A (PRSS1)
NR_172948.1:n.198-53T>A (PRSS1)
NR_172949.1:n.145T>A (PRSS1)
NR_172950.1:n.59T>A (PRSS1)
NR_172951.1:n.140-147T>A (PRSS1)