Canonical Allele Identifier: CA458538311

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• ClinVar Variation Id: 1736085
• ClinVar RCV Id: RCV002357499
• dbSNP Id: rs561097415
• gnomAD v4: 7-142751963-C-A
• MyVariant Identifiers: chr7:g.142459814C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142751963C>A , CM000669.2:g.142751963C>A	GRCh38
NC_000007.13:g.142459814C>A , CM000669.1:g.142459814C>A	GRCh37
NC_000007.12:g.142139388C>A	NCBI36
NG_008307.3:g.7480C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.390C>A (PRSS1) MANE Select	ENSP00000308720.7:p.Thr130=
ENST00000311737.11:c.390C>A (PRSS1)	ENSP00000308720.7:p.Thr130=
ENST00000463701.1:n.854C>A (PRSS1)
ENST00000485223.1:n.1388C>A (PRSS1)
ENST00000486171.5:c.432C>A (PRSS1)	ENSP00000417854.1:p.Thr144=
ENST00000492062.1:c.240C>A (PRSS1)	ENSP00000419912.1:p.Thr80=
ENST00000610416.2:c.370+30777C>A (TRBC1)	ENSP00000482915.1:n.370+30777C>A
ENST00000612126.4:c.390C>A (PRSS1)	ENSP00000479959.1:p.Thr130=
ENST00000619214.4:c.360C>A (PRSS1)	ENSP00000481361.1:p.Thr120=
ENST00000633114.1:c.321+69C>A (PRSS2)	ENSP00000487822.1:n.321+69C>A
ENST00000634019.1:c.82+3172C>A (PRSS2)	ENSP00000488594.1:n.82+3172C>A
NM_002769.4:c.390C>A (PRSS1)	NP_002760.1:p.Thr130=
XM_011516411.1:c.1065C>A (PRSS1)	XP_011514713.1:p.Thr355=
NM_002769.5:c.390C>A (PRSS1) MANE Select	NP_002760.1:p.Thr130=
NR_172947.1:n.332C>A (PRSS1)
NR_172948.1:n.329C>A (PRSS1)
NR_172949.1:n.329C>A (PRSS1)
NR_172950.1:n.243C>A (PRSS1)
NR_172951.1:n.177C>A (PRSS1)