Canonical Allele Identifier: CA4529930

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• dbSNP Id: rs773085470
• ExAC: 7:142459772 T / A
• gnomAD v2: 7-142459772-T-A
• gnomAD v4: 7-142751921-T-A
• MyVariant Identifiers: chr7:g.142459772T>A (hg19) ; chr7:g.142751921T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142751921T>A , CM000669.2:g.142751921T>A	GRCh38
NC_000007.13:g.142459772T>A , CM000669.1:g.142459772T>A	GRCh37
NC_000007.12:g.142139346T>A	NCBI36
NG_008307.3:g.7438T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.348T>A (PRSS1) MANE Select	ENSP00000308720.7:p.Arg116=
ENST00000311737.11:c.348T>A (PRSS1)	ENSP00000308720.7:p.Arg116=
ENST00000463701.1:n.812T>A (PRSS1)
ENST00000485223.1:n.1346T>A (PRSS1)
ENST00000486171.5:c.390T>A (PRSS1)	ENSP00000417854.1:p.Arg130=
ENST00000492062.1:c.198T>A (PRSS1)	ENSP00000419912.1:p.Arg66=
ENST00000610416.2:c.370+30735T>A (TRBC1)	ENSP00000482915.1:n.370+30735T>A
ENST00000612126.4:c.348T>A (PRSS1)	ENSP00000479959.1:p.Arg116=
ENST00000619214.4:c.318T>A (PRSS1)	ENSP00000481361.1:p.Arg106=
ENST00000633114.1:c.321+27T>A (PRSS2)	ENSP00000487822.1:n.321+27T>A
ENST00000634019.1:c.82+3130T>A (PRSS2)	ENSP00000488594.1:n.82+3130T>A
NM_002769.4:c.348T>A (PRSS1)	NP_002760.1:p.Arg116=
XM_011516411.1:c.1023T>A (PRSS1)	XP_011514713.1:p.Arg341=
NM_002769.5:c.348T>A (PRSS1) MANE Select	NP_002760.1:p.Arg116=
NR_172947.1:n.290T>A (PRSS1)
NR_172948.1:n.287T>A (PRSS1)
NR_172949.1:n.287T>A (PRSS1)
NR_172950.1:n.201T>A (PRSS1)
NR_172951.1:n.140-5T>A (PRSS1)