Canonical Allele Identifier: CA4529933

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• ClinVar Variation Id: 1732457
• ClinVar RCV Id: RCV002459480
• dbSNP Id: rs753618826
• ExAC: 7:142459777 T / G
• gnomAD v2: 7-142459777-T-G
• gnomAD v3: 7-142751926-T-G
• gnomAD v4: 7-142751926-T-G
• MyVariant Identifiers: chr7:g.142459777T>G (hg19) ; chr7:g.142751926T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142751926T>G , CM000669.2:g.142751926T>G	GRCh38
NC_000007.13:g.142459777T>G , CM000669.1:g.142459777T>G	GRCh37
NC_000007.12:g.142139351T>G	NCBI36
NG_008307.3:g.7443T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.353T>G (PRSS1) MANE Select	ENSP00000308720.7:p.Val118Gly
ENST00000311737.11:c.353T>G (PRSS1)	ENSP00000308720.7:p.Val118Gly
ENST00000463701.1:n.817T>G (PRSS1)
ENST00000485223.1:n.1351T>G (PRSS1)
ENST00000486171.5:c.395T>G (PRSS1)	ENSP00000417854.1:p.Val132Gly
ENST00000492062.1:c.203T>G (PRSS1)	ENSP00000419912.1:p.Val68Gly
ENST00000610416.2:c.370+30740T>G (TRBC1)	ENSP00000482915.1:n.370+30740T>G
ENST00000612126.4:c.353T>G (PRSS1)	ENSP00000479959.1:p.Val118Gly
ENST00000619214.4:c.323T>G (PRSS1)	ENSP00000481361.1:p.Val108Gly
ENST00000633114.1:c.321+32T>G (PRSS2)	ENSP00000487822.1:n.321+32T>G
ENST00000634019.1:c.82+3135T>G (PRSS2)	ENSP00000488594.1:n.82+3135T>G
NM_002769.4:c.353T>G (PRSS1)	NP_002760.1:p.Val118Gly
XM_011516411.1:c.1028T>G (PRSS1)	XP_011514713.1:p.Val343Gly
NM_002769.5:c.353T>G (PRSS1) MANE Select	NP_002760.1:p.Val118Gly
NR_172947.1:n.295T>G (PRSS1)
NR_172948.1:n.292T>G (PRSS1)
NR_172949.1:n.292T>G (PRSS1)
NR_172950.1:n.206T>G (PRSS1)
NR_172951.1:n.140T>G (PRSS1)