Canonical Allele Identifier: CA4529969

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• ClinVar Variation Id: 1692721
• ClinVar RCV Id: RCV002259250
• dbSNP Id: rs762545562
• ExAC: 7:142459867 C / T
• gnomAD v2: 7-142459867-C-T
• gnomAD v3: 7-142752016-C-T
• gnomAD v4: 7-142752016-C-T
• MyVariant Identifiers: chr7:g.142459867C>T (hg19) ; chr7:g.142752016C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142752016C>T , CM000669.2:g.142752016C>T	GRCh38
NC_000007.13:g.142459867C>T , CM000669.1:g.142459867C>T	GRCh37
NC_000007.12:g.142139441C>T	NCBI36
NG_008307.3:g.7533C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.443C>T (PRSS1) MANE Select	ENSP00000308720.7:p.Ala148Val
ENST00000311737.11:c.443C>T (PRSS1)	ENSP00000308720.7:p.Ala148Val
ENST00000463701.1:n.907C>T (PRSS1)
ENST00000486171.5:c.485C>T (PRSS1)	ENSP00000417854.1:p.Ala162Val
ENST00000492062.1:c.293C>T (PRSS1)	ENSP00000419912.1:p.Ala98Val
ENST00000610416.2:c.370+30830C>T (TRBC1)	ENSP00000482915.1:n.370+30830C>T
ENST00000612126.4:c.443C>T (PRSS1)	ENSP00000479959.1:p.Ala148Val
ENST00000619214.4:c.413C>T (PRSS1)	ENSP00000481361.1:p.Ala138Val
ENST00000633114.1:c.321+122C>T (PRSS2)	ENSP00000487822.1:n.321+122C>T
ENST00000634019.1:c.82+3225C>T (PRSS2)	ENSP00000488594.1:n.82+3225C>T
NM_002769.4:c.443C>T (PRSS1)	NP_002760.1:p.Ala148Val
XM_011516411.1:c.1118C>T (PRSS1)	XP_011514713.1:p.Ala373Val
NM_002769.5:c.443C>T (PRSS1) MANE Select	NP_002760.1:p.Ala148Val
NR_172947.1:n.385C>T (PRSS1)
NR_172948.1:n.382C>T (PRSS1)
NR_172949.1:n.382C>T (PRSS1)
NR_172950.1:n.296C>T (PRSS1)
NR_172951.1:n.230C>T (PRSS1)