Canonical Allele Identifier: CA369609012

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• ClinVar Variation Id: 1735428
• ClinVar RCV Id: RCV002364068
• dbSNP Id: rs749518244
• gnomAD v2: 7-142459807-T-C
• gnomAD v4: 7-142751956-T-C
• MyVariant Identifiers: chr7:g.142459807T>C (hg19) ; chr7:g.142751956T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142751956T>C , CM000669.2:g.142751956T>C	GRCh38
NC_000007.13:g.142459807T>C , CM000669.1:g.142459807T>C	GRCh37
NC_000007.12:g.142139381T>C	NCBI36
NG_008307.3:g.7473T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.383T>C (PRSS1) MANE Select	ENSP00000308720.7:p.Leu128Pro
ENST00000311737.11:c.383T>C (PRSS1)	ENSP00000308720.7:p.Leu128Pro
ENST00000463701.1:n.847T>C (PRSS1)
ENST00000485223.1:n.1381T>C (PRSS1)
ENST00000486171.5:c.425T>C (PRSS1)	ENSP00000417854.1:p.Leu142Pro
ENST00000492062.1:c.233T>C (PRSS1)	ENSP00000419912.1:p.Leu78Pro
ENST00000610416.2:c.370+30770T>C (TRBC1)	ENSP00000482915.1:n.370+30770T>C
ENST00000612126.4:c.383T>C (PRSS1)	ENSP00000479959.1:p.Leu128Pro
ENST00000619214.4:c.353T>C (PRSS1)	ENSP00000481361.1:p.Leu118Pro
ENST00000633114.1:c.321+62T>C (PRSS2)	ENSP00000487822.1:n.321+62T>C
ENST00000634019.1:c.82+3165T>C (PRSS2)	ENSP00000488594.1:n.82+3165T>C
NM_002769.4:c.383T>C (PRSS1)	NP_002760.1:p.Leu128Pro
XM_011516411.1:c.1058T>C (PRSS1)	XP_011514713.1:p.Leu353Pro
NM_002769.5:c.383T>C (PRSS1) MANE Select	NP_002760.1:p.Leu128Pro
NR_172947.1:n.325T>C (PRSS1)
NR_172948.1:n.322T>C (PRSS1)
NR_172949.1:n.322T>C (PRSS1)
NR_172950.1:n.236T>C (PRSS1)
NR_172951.1:n.170T>C (PRSS1)