Canonical Allele Identifier: CA256110

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• ClinVar Variation Id: 11885
• ClinVar RCV Id: RCV000012660 ; RCV001753414 ; RCV003234902
• dbSNP Id: rs199422123
• ExAC: 7:142459785 G / A
• gnomAD v2: 7-142459785-G-A
• gnomAD v3: 7-142751934-G-A
• gnomAD v4: 7-142751934-G-A
• COSMIC: COSM6108800
• MyVariant Identifiers: chr7:g.142459785G>A (hg19) ; chr7:g.142751934G>A (hg38)
• PubMed: PMID:18511571 ; PMID:20452997

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142751934G>A , CM000669.2:g.142751934G>A	GRCh38
NC_000007.13:g.142459785G>A , CM000669.1:g.142459785G>A	GRCh37
NC_000007.12:g.142139359G>A	NCBI36
NG_008307.3:g.7451G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.361G>A (PRSS1) MANE Select	ENSP00000308720.7:p.Ala121Thr
ENST00000311737.11:c.361G>A (PRSS1)	ENSP00000308720.7:p.Ala121Thr
ENST00000463701.1:n.825G>A (PRSS1)
ENST00000485223.1:n.1359G>A (PRSS1)
ENST00000486171.5:c.403G>A (PRSS1)	ENSP00000417854.1:p.Ala135Thr
ENST00000492062.1:c.211G>A (PRSS1)	ENSP00000419912.1:p.Ala71Thr
ENST00000610416.2:c.370+30748G>A (TRBC1)	ENSP00000482915.1:n.370+30748G>A
ENST00000612126.4:c.361G>A (PRSS1)	ENSP00000479959.1:p.Ala121Thr
ENST00000619214.4:c.331G>A (PRSS1)	ENSP00000481361.1:p.Ala111Thr
ENST00000633114.1:c.321+40G>A (PRSS2)	ENSP00000487822.1:n.321+40G>A
ENST00000634019.1:c.82+3143G>A (PRSS2)	ENSP00000488594.1:n.82+3143G>A
NM_002769.4:c.361G>A (PRSS1)	NP_002760.1:p.Ala121Thr
XM_011516411.1:c.1036G>A (PRSS1)	XP_011514713.1:p.Ala346Thr
NM_002769.5:c.361G>A (PRSS1) MANE Select	NP_002760.1:p.Ala121Thr
NR_172947.1:n.303G>A (PRSS1)
NR_172948.1:n.300G>A (PRSS1)
NR_172949.1:n.300G>A (PRSS1)
NR_172950.1:n.214G>A (PRSS1)
NR_172951.1:n.148G>A (PRSS1)