Canonical Allele Identifier: CA260517

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• ClinVar Variation Id: 36704
• ClinVar RCV Id: RCV000030383
• dbSNP Id: rs193922655
• MyVariant Identifiers: chr7:g.142459813C>T (hg19) ; chr7:g.142751962C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142751962C>T , CM000669.2:g.142751962C>T	GRCh38
NC_000007.13:g.142459813C>T , CM000669.1:g.142459813C>T	GRCh37
NC_000007.12:g.142139387C>T	NCBI36
NG_008307.3:g.7479C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.389C>T (PRSS1) MANE Select	ENSP00000308720.7:p.Thr130Ile
ENST00000311737.11:c.389C>T (PRSS1)	ENSP00000308720.7:p.Thr130Ile
ENST00000463701.1:n.853C>T (PRSS1)
ENST00000485223.1:n.1387C>T (PRSS1)
ENST00000486171.5:c.431C>T (PRSS1)	ENSP00000417854.1:p.Thr144Ile
ENST00000492062.1:c.239C>T (PRSS1)	ENSP00000419912.1:p.Thr80Ile
ENST00000610416.2:c.370+30776C>T (TRBC1)	ENSP00000482915.1:n.370+30776C>T
ENST00000612126.4:c.389C>T (PRSS1)	ENSP00000479959.1:p.Thr130Ile
ENST00000619214.4:c.359C>T (PRSS1)	ENSP00000481361.1:p.Thr120Ile
ENST00000633114.1:c.321+68C>T (PRSS2)	ENSP00000487822.1:n.321+68C>T
ENST00000634019.1:c.82+3171C>T (PRSS2)	ENSP00000488594.1:n.82+3171C>T
NM_002769.4:c.389C>T (PRSS1)	NP_002760.1:p.Thr130Ile
XM_011516411.1:c.1064C>T (PRSS1)	XP_011514713.1:p.Thr355Ile
NM_002769.5:c.389C>T (PRSS1) MANE Select	NP_002760.1:p.Thr130Ile
NR_172947.1:n.331C>T (PRSS1)
NR_172948.1:n.328C>T (PRSS1)
NR_172949.1:n.328C>T (PRSS1)
NR_172950.1:n.242C>T (PRSS1)
NR_172951.1:n.176C>T (PRSS1)