Canonical Allele Identifier: CA2685349635

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• gnomAD v4: 7-142752144-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142752144T>C , CM000669.2:g.142752144T>C	GRCh38
NC_000007.13:g.142459995T>C , CM000669.1:g.142459995T>C	GRCh37
NC_000007.12:g.142139569T>C	NCBI36
NG_008307.3:g.7661T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.454+117T>C (PRSS1) MANE Select	ENSP00000308720.7:n.454+117T>C
ENST00000311737.11:c.454+117T>C (PRSS1)	ENSP00000308720.7:n.454+117T>C
ENST00000463701.1:n.918+117T>C (PRSS1)
ENST00000486171.5:c.496+117T>C (PRSS1)	ENSP00000417854.1:n.496+117T>C
ENST00000492062.1:c.304+117T>C (PRSS1)	ENSP00000419912.1:n.304+117T>C
ENST00000610416.2:c.370+30958T>C (TRBC1)	ENSP00000482915.1:n.370+30958T>C
ENST00000612126.4:c.454+117T>C (PRSS1)	ENSP00000479959.1:n.454+117T>C
ENST00000619214.4:c.424+117T>C (PRSS1)	ENSP00000481361.1:n.424+117T>C
ENST00000633114.1:c.321+250T>C (PRSS2)	ENSP00000487822.1:n.321+250T>C
ENST00000634019.1:c.82+3353T>C (PRSS2)	ENSP00000488594.1:n.82+3353T>C
NM_002769.4:c.454+117T>C (PRSS1)	NP_002760.1:n.454+117T>C
XM_011516411.1:c.1129+117T>C (PRSS1)	XP_011514713.1:n.1129+117T>C
NM_002769.5:c.454+117T>C (PRSS1) MANE Select	NP_002760.1:n.454+117T>C
NR_172947.1:n.396+117T>C (PRSS1)
NR_172948.1:n.393+117T>C (PRSS1)
NR_172949.1:n.393+117T>C (PRSS1)
NR_172950.1:n.307+117T>C (PRSS1)
NR_172951.1:n.241+117T>C (PRSS1)