Canonical Allele Identifier: CA4529949

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• ClinVar Variation Id: 835637
• ClinVar RCV Id: RCV001036571
• dbSNP Id: rs759452330
• ExAC: 7:142459819 C / A
• gnomAD v2: 7-142459819-C-A
• gnomAD v4: 7-142751968-C-A
• MyVariant Identifiers: chr7:g.142459819C>A (hg19) ; chr7:g.142459819_142459820delinsAT (hg19) ; chr7:g.142751968C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142751968C>A , CM000669.2:g.142751968C>A	GRCh38
NC_000007.13:g.142459819C>A , CM000669.1:g.142459819C>A	GRCh37
NC_000007.12:g.142139393C>A	NCBI36
NG_008307.3:g.7485C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.395C>A (PRSS1) MANE Select	ENSP00000308720.7:p.Pro132His
ENST00000311737.11:c.395C>A (PRSS1)	ENSP00000308720.7:p.Pro132His
ENST00000463701.1:n.859C>A (PRSS1)
ENST00000485223.1:n.1393C>A (PRSS1)
ENST00000486171.5:c.437C>A (PRSS1)	ENSP00000417854.1:p.Pro146His
ENST00000492062.1:c.245C>A (PRSS1)	ENSP00000419912.1:p.Pro82His
ENST00000610416.2:c.370+30782C>A (TRBC1)	ENSP00000482915.1:n.370+30782C>A
ENST00000612126.4:c.395C>A (PRSS1)	ENSP00000479959.1:p.Pro132His
ENST00000619214.4:c.365C>A (PRSS1)	ENSP00000481361.1:p.Pro122His
ENST00000633114.1:c.321+74C>A (PRSS2)	ENSP00000487822.1:n.321+74C>A
ENST00000634019.1:c.82+3177C>A (PRSS2)	ENSP00000488594.1:n.82+3177C>A
NM_002769.4:c.395C>A (PRSS1)	NP_002760.1:p.Pro132His
XM_011516411.1:c.1070C>A (PRSS1)	XP_011514713.1:p.Pro357His
NM_002769.5:c.395C>A (PRSS1) MANE Select	NP_002760.1:p.Pro132His
NR_172947.1:n.337C>A (PRSS1)
NR_172948.1:n.334C>A (PRSS1)
NR_172949.1:n.334C>A (PRSS1)
NR_172950.1:n.248C>A (PRSS1)
NR_172951.1:n.182C>A (PRSS1)