Canonical Allele Identifier: CA369609085

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• ClinVar Variation Id: 2563186
• ClinVar RCV Id: RCV003301347
• gnomAD v4: 7-142751979-G-T
• MyVariant Identifiers: chr7:g.142459830G>T (hg19) ; chr7:g.142751979G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142751979G>T , CM000669.2:g.142751979G>T	GRCh38
NC_000007.13:g.142459830G>T , CM000669.1:g.142459830G>T	GRCh37
NC_000007.12:g.142139404G>T	NCBI36
NG_008307.3:g.7496G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000311737.12:c.406G>T (PRSS1) MANE Select	ENSP00000308720.7:p.Gly136Cys
ENST00000311737.11:c.406G>T (PRSS1)	ENSP00000308720.7:p.Gly136Cys
ENST00000463701.1:n.870G>T (PRSS1)
ENST00000485223.1:n.1404G>T (PRSS1)
ENST00000486171.5:c.448G>T (PRSS1)	ENSP00000417854.1:p.Gly150Cys
ENST00000492062.1:c.256G>T (PRSS1)	ENSP00000419912.1:p.Gly86Cys
ENST00000610416.2:c.370+30793G>T (TRBC1)	ENSP00000482915.1:n.370+30793G>T
ENST00000612126.4:c.406G>T (PRSS1)	ENSP00000479959.1:p.Gly136Cys
ENST00000619214.4:c.376G>T (PRSS1)	ENSP00000481361.1:p.Gly126Cys
ENST00000633114.1:c.321+85G>T (PRSS2)	ENSP00000487822.1:n.321+85G>T
ENST00000634019.1:c.82+3188G>T (PRSS2)	ENSP00000488594.1:n.82+3188G>T
NM_002769.4:c.406G>T (PRSS1)	NP_002760.1:p.Gly136Cys
XM_011516411.1:c.1081G>T (PRSS1)	XP_011514713.1:p.Gly361Cys
NM_002769.5:c.406G>T (PRSS1) MANE Select	NP_002760.1:p.Gly136Cys
NR_172947.1:n.348G>T (PRSS1)
NR_172948.1:n.345G>T (PRSS1)
NR_172949.1:n.345G>T (PRSS1)
NR_172950.1:n.259G>T (PRSS1)
NR_172951.1:n.193G>T (PRSS1)