Canonical Allele Identifier: CA369608339

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• ClinVar Variation Id: 2899912
• ClinVar RCV Id: RCV003624311
• dbSNP Id: rs1798755905
• gnomAD v4: 7-142751778-A-G
• MyVariant Identifiers: chr7:g.142459629A>G (hg19) ; chr7:g.142751778A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142751778A>G , CM000669.2:g.142751778A>G	GRCh38
NC_000007.13:g.142459629A>G , CM000669.1:g.142459629A>G	GRCh37
NC_000007.12:g.142139203A>G	NCBI36
NG_008307.3:g.7295A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.205A>G (PRSS1) MANE Select	ENSP00000308720.7:p.Ile69Val
ENST00000311737.11:c.205A>G (PRSS1)	ENSP00000308720.7:p.Ile69Val
ENST00000463701.1:n.669A>G (PRSS1)
ENST00000485223.1:n.1203A>G (PRSS1)
ENST00000486171.5:c.247A>G (PRSS1)	ENSP00000417854.1:p.Ile83Val
ENST00000492062.1:c.55A>G (PRSS1)	ENSP00000419912.1:p.Ile19Val
ENST00000610416.2:c.370+30592A>G (TRBC1)	ENSP00000482915.1:n.370+30592A>G
ENST00000612126.4:c.205A>G (PRSS1)	ENSP00000479959.1:p.Ile69Val
ENST00000619214.4:c.205A>G (PRSS1)	ENSP00000481361.1:p.Ile69Val
ENST00000633114.1:c.205A>G (PRSS2)	ENSP00000487822.1:p.Ile69Val
ENST00000634019.1:c.82+2987A>G (PRSS2)	ENSP00000488594.1:n.82+2987A>G
NM_002769.4:c.205A>G (PRSS1)	NP_002760.1:p.Ile69Val
XM_011516411.1:c.880A>G (PRSS1)	XP_011514713.1:p.Ile294Val
NM_002769.5:c.205A>G (PRSS1) MANE Select	NP_002760.1:p.Ile69Val
NR_172947.1:n.198-51A>G (PRSS1)
NR_172948.1:n.198-54A>G (PRSS1)
NR_172949.1:n.144A>G (PRSS1)
NR_172950.1:n.58A>G (PRSS1)
NR_172951.1:n.140-148A>G (PRSS1)