Canonical Allele Identifier: CA341152

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• ClinVar Variation Id: 11877
• ClinVar RCV Id: RCV000012652 ; RCV000763166 ; RCV001507089 ; RCV002463587 ; RCV003103713
• dbSNP Id: rs111033566
• ExAC: 7:142458451 A / T
• gnomAD v2: 7-142458451-A-T
• gnomAD v4: 7-142750600-A-T
• MyVariant Identifiers: chr7:g.142458451A>T (hg19) ; chr7:g.142750600A>T (hg38)
• PubMed: PMID:6023921 ; PMID:9322498 ; PMID:10204851 ; PMID:10835640 ; PMID:10872414 ; PMID:10982192 ; PMID:11842279 ; PMID:11950817 ; PMID:12853682 ; PMID:15028953 ; PMID:16632094 ; PMID:21415673 ; PMID:22379635 ; PMID:22539344 ; PMID:24002981 ; PMID:24624459

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142750600A>T , CM000669.2:g.142750600A>T	GRCh38
NC_000007.13:g.142458451A>T , CM000669.1:g.142458451A>T	GRCh37
NC_000007.12:g.142138025A>T	NCBI36
NG_008307.3:g.6117A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.86A>T (PRSS1) MANE Select	ENSP00000308720.7:p.Asn29Ile
ENST00000311737.11:c.86A>T (PRSS1)	ENSP00000308720.7:p.Asn29Ile
ENST00000485223.1:n.54-29A>T (PRSS1)
ENST00000486171.5:c.86A>T (PRSS1)	ENSP00000417854.1:p.Asn29Ile
ENST00000497041.1:n.90A>T (PRSS1)
ENST00000610416.2:c.370+29414A>T (TRBC1)	ENSP00000482915.1:n.370+29414A>T
ENST00000612126.4:c.86A>T (PRSS1)	ENSP00000479959.1:p.Asn29Ile
ENST00000619214.4:c.86A>T (PRSS1)	ENSP00000481361.1:p.Asn29Ile
ENST00000633114.1:c.86A>T (PRSS2)	ENSP00000487822.1:p.Asn29Ile
ENST00000634019.1:c.82+1809A>T (PRSS2)	ENSP00000488594.1:n.82+1809A>T
NM_002769.4:c.86A>T (PRSS1)	NP_002760.1:p.Asn29Ile
XM_011516411.1:c.761A>T (PRSS1)	XP_011514713.1:p.Asn254Ile
NM_002769.5:c.86A>T (PRSS1) MANE Select	NP_002760.1:p.Asn29Ile
NR_172947.1:n.99A>T (PRSS1)
NR_172948.1:n.99A>T (PRSS1)
NR_172949.1:n.54-29A>T (PRSS1)
NR_172950.1:n.53+1076A>T (PRSS1)
NR_172951.1:n.54-29A>T (PRSS1)