Canonical Allele Identifier: CA4529956

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• ClinVar Variation Id: 1738005
• ClinVar RCV Id: RCV002323495
• dbSNP Id: rs369013081
• ExAC: 7:142459835 G / C
• gnomAD v2: 7-142459835-G-C
• gnomAD v3: 7-142751984-G-C
• gnomAD v4: 7-142751984-G-C
• MyVariant Identifiers: chr7:g.142459835G>C (hg19) ; chr7:g.142751984G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142751984G>C , CM000669.2:g.142751984G>C	GRCh38
NC_000007.13:g.142459835G>C , CM000669.1:g.142459835G>C	GRCh37
NC_000007.12:g.142139409G>C	NCBI36
NG_008307.3:g.7501G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.411G>C (PRSS1) MANE Select	ENSP00000308720.7:p.Thr137=
ENST00000311737.11:c.411G>C (PRSS1)	ENSP00000308720.7:p.Thr137=
ENST00000463701.1:n.875G>C (PRSS1)
ENST00000485223.1:n.1409G>C (PRSS1)
ENST00000486171.5:c.453G>C (PRSS1)	ENSP00000417854.1:p.Thr151=
ENST00000492062.1:c.261G>C (PRSS1)	ENSP00000419912.1:p.Thr87=
ENST00000610416.2:c.370+30798G>C (TRBC1)	ENSP00000482915.1:n.370+30798G>C
ENST00000612126.4:c.411G>C (PRSS1)	ENSP00000479959.1:p.Thr137=
ENST00000619214.4:c.381G>C (PRSS1)	ENSP00000481361.1:p.Thr127=
ENST00000633114.1:c.321+90G>C (PRSS2)	ENSP00000487822.1:n.321+90G>C
ENST00000634019.1:c.82+3193G>C (PRSS2)	ENSP00000488594.1:n.82+3193G>C
NM_002769.4:c.411G>C (PRSS1)	NP_002760.1:p.Thr137=
XM_011516411.1:c.1086G>C (PRSS1)	XP_011514713.1:p.Thr362=
NM_002769.5:c.411G>C (PRSS1) MANE Select	NP_002760.1:p.Thr137=
NR_172947.1:n.353G>C (PRSS1)
NR_172948.1:n.350G>C (PRSS1)
NR_172949.1:n.350G>C (PRSS1)
NR_172950.1:n.264G>C (PRSS1)
NR_172951.1:n.198G>C (PRSS1)