Canonical Allele Identifier: CA369608810

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• ClinVar Variation Id: 2621817
• ClinVar RCV Id: RCV003372466
• dbSNP Id: rs1482612529
• MyVariant Identifiers: chr7:g.142459750T>G (hg19) ; chr7:g.142751899T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142751899T>G , CM000669.2:g.142751899T>G	GRCh38
NC_000007.13:g.142459750T>G , CM000669.1:g.142459750T>G	GRCh37
NC_000007.12:g.142139324T>G	NCBI36
NG_008307.3:g.7416T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.326T>G (PRSS1) MANE Select	ENSP00000308720.7:p.Met109Arg
ENST00000311737.11:c.326T>G (PRSS1)	ENSP00000308720.7:p.Met109Arg
ENST00000463701.1:n.790T>G (PRSS1)
ENST00000485223.1:n.1324T>G (PRSS1)
ENST00000486171.5:c.368T>G (PRSS1)	ENSP00000417854.1:p.Met123Arg
ENST00000492062.1:c.176T>G (PRSS1)	ENSP00000419912.1:p.Met59Arg
ENST00000610416.2:c.370+30713T>G (TRBC1)	ENSP00000482915.1:n.370+30713T>G
ENST00000612126.4:c.326T>G (PRSS1)	ENSP00000479959.1:p.Met109Arg
ENST00000619214.4:c.296T>G (PRSS1)	ENSP00000481361.1:p.Met99Arg
ENST00000633114.1:c.321+5T>G (PRSS2)	ENSP00000487822.1:n.321+5T>G
ENST00000634019.1:c.82+3108T>G (PRSS2)	ENSP00000488594.1:n.82+3108T>G
NM_002769.4:c.326T>G (PRSS1)	NP_002760.1:p.Met109Arg
XM_011516411.1:c.1001T>G (PRSS1)	XP_011514713.1:p.Met334Arg
NM_002769.5:c.326T>G (PRSS1) MANE Select	NP_002760.1:p.Met109Arg
NR_172947.1:n.268T>G (PRSS1)
NR_172948.1:n.265T>G (PRSS1)
NR_172949.1:n.265T>G (PRSS1)
NR_172950.1:n.179T>G (PRSS1)
NR_172951.1:n.140-27T>G (PRSS1)