Canonical Allele Identifier: CA369608808

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• ClinVar Variation Id: 2563193
• ClinVar RCV Id: RCV003301354
• MyVariant Identifiers: chr7:g.142459750T>A (hg19) ; chr7:g.142751899T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.326T>A (PRSS1) MANE Select	ENSP00000308720.7:p.Met109Lys
ENST00000311737.11:c.326T>A (PRSS1)	ENSP00000308720.7:p.Met109Lys
ENST00000463701.1:n.790T>A (PRSS1)
ENST00000485223.1:n.1324T>A (PRSS1)
ENST00000486171.5:c.368T>A (PRSS1)	ENSP00000417854.1:p.Met123Lys
ENST00000492062.1:c.176T>A (PRSS1)	ENSP00000419912.1:p.Met59Lys
ENST00000610416.2:c.370+30713T>A (TRBC1)	ENSP00000482915.1:n.370+30713T>A
ENST00000612126.4:c.326T>A (PRSS1)	ENSP00000479959.1:p.Met109Lys
ENST00000619214.4:c.296T>A (PRSS1)	ENSP00000481361.1:p.Met99Lys
ENST00000633114.1:c.321+5T>A (PRSS2)	ENSP00000487822.1:n.321+5T>A
ENST00000634019.1:c.82+3108T>A (PRSS2)	ENSP00000488594.1:n.82+3108T>A
NM_002769.4:c.326T>A (PRSS1)	NP_002760.1:p.Met109Lys
XM_011516411.1:c.1001T>A (PRSS1)	XP_011514713.1:p.Met334Lys
NM_002769.5:c.326T>A (PRSS1) MANE Select	NP_002760.1:p.Met109Lys
NR_172947.1:n.268T>A (PRSS1)
NR_172948.1:n.265T>A (PRSS1)
NR_172949.1:n.265T>A (PRSS1)
NR_172950.1:n.179T>A (PRSS1)
NR_172951.1:n.140-27T>A (PRSS1)