Canonical Allele Identifier: CA369609191

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• ClinVar Variation Id: 1739772
• ClinVar RCV Id: RCV002332109
• dbSNP Id: rs1164331073
• gnomAD v2: 7-142459856-G-T
• gnomAD v4: 7-142752005-G-T
• MyVariant Identifiers: chr7:g.142459856G>T (hg19) ; chr7:g.142752005G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142752005G>T , CM000669.2:g.142752005G>T	GRCh38
NC_000007.13:g.142459856G>T , CM000669.1:g.142459856G>T	GRCh37
NC_000007.12:g.142139430G>T	NCBI36
NG_008307.3:g.7522G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.432G>T (PRSS1) MANE Select	ENSP00000308720.7:p.Trp144Cys
ENST00000311737.11:c.432G>T (PRSS1)	ENSP00000308720.7:p.Trp144Cys
ENST00000463701.1:n.896G>T (PRSS1)
ENST00000485223.1:n.1430G>T (PRSS1)
ENST00000486171.5:c.474G>T (PRSS1)	ENSP00000417854.1:p.Trp158Cys
ENST00000492062.1:c.282G>T (PRSS1)	ENSP00000419912.1:p.Trp94Cys
ENST00000610416.2:c.370+30819G>T (TRBC1)	ENSP00000482915.1:n.370+30819G>T
ENST00000612126.4:c.432G>T (PRSS1)	ENSP00000479959.1:p.Trp144Cys
ENST00000619214.4:c.402G>T (PRSS1)	ENSP00000481361.1:p.Trp134Cys
ENST00000633114.1:c.321+111G>T (PRSS2)	ENSP00000487822.1:n.321+111G>T
ENST00000634019.1:c.82+3214G>T (PRSS2)	ENSP00000488594.1:n.82+3214G>T
NM_002769.4:c.432G>T (PRSS1)	NP_002760.1:p.Trp144Cys
XM_011516411.1:c.1107G>T (PRSS1)	XP_011514713.1:p.Trp369Cys
NM_002769.5:c.432G>T (PRSS1) MANE Select	NP_002760.1:p.Trp144Cys
NR_172947.1:n.374G>T (PRSS1)
NR_172948.1:n.371G>T (PRSS1)
NR_172949.1:n.371G>T (PRSS1)
NR_172950.1:n.285G>T (PRSS1)
NR_172951.1:n.219G>T (PRSS1)