Canonical Allele Identifier: CA369608505

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• ClinVar Variation Id: 1791763
• ClinVar RCV Id: RCV002455540
• MyVariant Identifiers: chr7:g.142459670G>T (hg19) ; chr7:g.142751819G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142751819G>T , CM000669.2:g.142751819G>T	GRCh38
NC_000007.13:g.142459670G>T , CM000669.1:g.142459670G>T	GRCh37
NC_000007.12:g.142139244G>T	NCBI36
NG_008307.3:g.7336G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.246G>T (PRSS1) MANE Select	ENSP00000308720.7:p.Glu82Asp
ENST00000311737.11:c.246G>T (PRSS1)	ENSP00000308720.7:p.Glu82Asp
ENST00000463701.1:n.710G>T (PRSS1)
ENST00000485223.1:n.1244G>T (PRSS1)
ENST00000486171.5:c.288G>T (PRSS1)	ENSP00000417854.1:p.Glu96Asp
ENST00000492062.1:c.96G>T (PRSS1)	ENSP00000419912.1:p.Glu32Asp
ENST00000610416.2:c.370+30633G>T (TRBC1)	ENSP00000482915.1:n.370+30633G>T
ENST00000612126.4:c.246G>T (PRSS1)	ENSP00000479959.1:p.Glu82Asp
ENST00000619214.4:c.233+13G>T (PRSS1)	ENSP00000481361.1:n.233+13G>T
ENST00000633114.1:c.246G>T (PRSS2)	ENSP00000487822.1:p.Glu82Asp
ENST00000634019.1:c.82+3028G>T (PRSS2)	ENSP00000488594.1:n.82+3028G>T
NM_002769.4:c.246G>T (PRSS1)	NP_002760.1:p.Glu82Asp
XM_011516411.1:c.921G>T (PRSS1)	XP_011514713.1:p.Glu307Asp
NM_002769.5:c.246G>T (PRSS1) MANE Select	NP_002760.1:p.Glu82Asp
NR_172947.1:n.198-10G>T (PRSS1)
NR_172948.1:n.198-13G>T (PRSS1)
NR_172949.1:n.185G>T (PRSS1)
NR_172950.1:n.99G>T (PRSS1)
NR_172951.1:n.140-107G>T (PRSS1)