Canonical Allele Identifier: CA341151

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• ClinVar Variation Id: 11876
• ClinVar RCV Id: RCV000012651 ; RCV000487005 ; RCV003944816
• dbSNP Id: rs111033565
• ExAC: 7:142459789 G / A
• gnomAD v2: 7-142459789-G-A
• gnomAD v3: 7-142751938-G-A
• gnomAD v4: 7-142751938-G-A
• MyVariant Identifiers: chr7:g.142459789G>A (hg19) ; chr7:g.142751938G>A (hg38)
• PubMed: PMID:8841182 ; PMID:10204851 ; PMID:10909845 ; PMID:11073545 ; PMID:11938439 ; PMID:12413370 ; PMID:16791840 ; PMID:22379635 ; PMID:24624459

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142751938G>A , CM000669.2:g.142751938G>A	GRCh38
NC_000007.13:g.142459789G>A , CM000669.1:g.142459789G>A	GRCh37
NC_000007.12:g.142139363G>A	NCBI36
NG_008307.3:g.7455G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.365G>A (PRSS1) MANE Select	ENSP00000308720.7:p.Arg122His
ENST00000311737.11:c.365G>A (PRSS1)	ENSP00000308720.7:p.Arg122His
ENST00000463701.1:n.829G>A (PRSS1)
ENST00000485223.1:n.1363G>A (PRSS1)
ENST00000486171.5:c.407G>A (PRSS1)	ENSP00000417854.1:p.Arg136His
ENST00000492062.1:c.215G>A (PRSS1)	ENSP00000419912.1:p.Arg72His
ENST00000610416.2:c.370+30752G>A (TRBC1)	ENSP00000482915.1:n.370+30752G>A
ENST00000612126.4:c.365G>A (PRSS1)	ENSP00000479959.1:p.Arg122His
ENST00000619214.4:c.335G>A (PRSS1)	ENSP00000481361.1:p.Arg112His
ENST00000633114.1:c.321+44G>A (PRSS2)	ENSP00000487822.1:n.321+44G>A
ENST00000634019.1:c.82+3147G>A (PRSS2)	ENSP00000488594.1:n.82+3147G>A
NM_002769.4:c.365G>A (PRSS1)	NP_002760.1:p.Arg122His
XM_011516411.1:c.1040G>A (PRSS1)	XP_011514713.1:p.Arg347His
NM_002769.5:c.365G>A (PRSS1) MANE Select	NP_002760.1:p.Arg122His
NR_172947.1:n.307G>A (PRSS1)
NR_172948.1:n.304G>A (PRSS1)
NR_172949.1:n.304G>A (PRSS1)
NR_172950.1:n.218G>A (PRSS1)
NR_172951.1:n.152G>A (PRSS1)