Canonical Allele Identifier: CA4529879

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• dbSNP Id: rs745551657
• ExAC: 7:142459635 G / A
• gnomAD v2: 7-142459635-G-A
• gnomAD v3: 7-142751784-G-A
• gnomAD v4: 7-142751784-G-A
• MyVariant Identifiers: chr7:g.142459635G>A (hg19) ; chr7:g.142751784G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142751784G>A , CM000669.2:g.142751784G>A	GRCh38
NC_000007.13:g.142459635G>A , CM000669.1:g.142459635G>A	GRCh37
NC_000007.12:g.142139209G>A	NCBI36
NG_008307.3:g.7301G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.211G>A (PRSS1) MANE Select	ENSP00000308720.7:p.Val71Met
ENST00000311737.11:c.211G>A (PRSS1)	ENSP00000308720.7:p.Val71Met
ENST00000463701.1:n.675G>A (PRSS1)
ENST00000485223.1:n.1209G>A (PRSS1)
ENST00000486171.5:c.253G>A (PRSS1)	ENSP00000417854.1:p.Val85Met
ENST00000492062.1:c.61G>A (PRSS1)	ENSP00000419912.1:p.Val21Met
ENST00000610416.2:c.370+30598G>A (TRBC1)	ENSP00000482915.1:n.370+30598G>A
ENST00000612126.4:c.211G>A (PRSS1)	ENSP00000479959.1:p.Val71Met
ENST00000619214.4:c.211G>A (PRSS1)	ENSP00000481361.1:p.Val71Met
ENST00000633114.1:c.211G>A (PRSS2)	ENSP00000487822.1:p.Val71Met
ENST00000634019.1:c.82+2993G>A (PRSS2)	ENSP00000488594.1:n.82+2993G>A
NM_002769.4:c.211G>A (PRSS1)	NP_002760.1:p.Val71Met
XM_011516411.1:c.886G>A (PRSS1)	XP_011514713.1:p.Val296Met
NM_002769.5:c.211G>A (PRSS1) MANE Select	NP_002760.1:p.Val71Met
NR_172947.1:n.198-45G>A (PRSS1)
NR_172948.1:n.198-48G>A (PRSS1)
NR_172949.1:n.150G>A (PRSS1)
NR_172950.1:n.64G>A (PRSS1)
NR_172951.1:n.140-142G>A (PRSS1)