Canonical Allele Identifier: CA458266323

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• ClinVar Variation Id: 1741320
• ClinVar RCV Id: RCV002340084
• dbSNP Id: rs147765409
• gnomAD v4: 7-142752026-C-A
• MyVariant Identifiers: chr7:g.142459877C>A (hg19) ; chr7:g.142752026C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142752026C>A , CM000669.2:g.142752026C>A	GRCh38
NC_000007.13:g.142459877C>A , CM000669.1:g.142459877C>A	GRCh37
NC_000007.12:g.142139451C>A	NCBI36
NG_008307.3:g.7543C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.453C>A (PRSS1) MANE Select	ENSP00000308720.7:p.Gly151=
ENST00000311737.11:c.453C>A (PRSS1)	ENSP00000308720.7:p.Gly151=
ENST00000463701.1:n.917C>A (PRSS1)
ENST00000486171.5:c.495C>A (PRSS1)	ENSP00000417854.1:p.Gly165=
ENST00000492062.1:c.303C>A (PRSS1)	ENSP00000419912.1:p.Gly101=
ENST00000610416.2:c.370+30840C>A (TRBC1)	ENSP00000482915.1:n.370+30840C>A
ENST00000612126.4:c.453C>A (PRSS1)	ENSP00000479959.1:p.Gly151=
ENST00000619214.4:c.423C>A (PRSS1)	ENSP00000481361.1:p.Gly141=
ENST00000633114.1:c.321+132C>A (PRSS2)	ENSP00000487822.1:n.321+132C>A
ENST00000634019.1:c.82+3235C>A (PRSS2)	ENSP00000488594.1:n.82+3235C>A
NM_002769.4:c.453C>A (PRSS1)	NP_002760.1:p.Gly151=
XM_011516411.1:c.1128C>A (PRSS1)	XP_011514713.1:p.Gly376=
NM_002769.5:c.453C>A (PRSS1) MANE Select	NP_002760.1:p.Gly151=
NR_172947.1:n.395C>A (PRSS1)
NR_172948.1:n.392C>A (PRSS1)
NR_172949.1:n.392C>A (PRSS1)
NR_172950.1:n.306C>A (PRSS1)
NR_172951.1:n.240C>A (PRSS1)