Canonical Allele Identifier: CA369608388

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• dbSNP Id: rs1248279792
• gnomAD v2: 7-142459641-C-G
• gnomAD v4: 7-142751790-C-G
• MyVariant Identifiers: chr7:g.142459641C>G (hg19) ; chr7:g.142751790C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142751790C>G , CM000669.2:g.142751790C>G	GRCh38
NC_000007.13:g.142459641C>G , CM000669.1:g.142459641C>G	GRCh37
NC_000007.12:g.142139215C>G	NCBI36
NG_008307.3:g.7307C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.217C>G (PRSS1) MANE Select	ENSP00000308720.7:p.Leu73Val
ENST00000311737.11:c.217C>G (PRSS1)	ENSP00000308720.7:p.Leu73Val
ENST00000463701.1:n.681C>G (PRSS1)
ENST00000485223.1:n.1215C>G (PRSS1)
ENST00000486171.5:c.259C>G (PRSS1)	ENSP00000417854.1:p.Leu87Val
ENST00000492062.1:c.67C>G (PRSS1)	ENSP00000419912.1:p.Leu23Val
ENST00000610416.2:c.370+30604C>G (TRBC1)	ENSP00000482915.1:n.370+30604C>G
ENST00000612126.4:c.217C>G (PRSS1)	ENSP00000479959.1:p.Leu73Val
ENST00000619214.4:c.217C>G (PRSS1)	ENSP00000481361.1:p.Leu73Val
ENST00000633114.1:c.217C>G (PRSS2)	ENSP00000487822.1:p.Leu73Val
ENST00000634019.1:c.82+2999C>G (PRSS2)	ENSP00000488594.1:n.82+2999C>G
NM_002769.4:c.217C>G (PRSS1)	NP_002760.1:p.Leu73Val
XM_011516411.1:c.892C>G (PRSS1)	XP_011514713.1:p.Leu298Val
NM_002769.5:c.217C>G (PRSS1) MANE Select	NP_002760.1:p.Leu73Val
NR_172947.1:n.198-39C>G (PRSS1)
NR_172948.1:n.198-42C>G (PRSS1)
NR_172949.1:n.156C>G (PRSS1)
NR_172950.1:n.70C>G (PRSS1)
NR_172951.1:n.140-136C>G (PRSS1)