Canonical Allele Identifier: CA369608968

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• ClinVar Variation Id: 1024195
• ClinVar RCV Id: RCV001324350
• dbSNP Id: rs1798775039
• gnomAD v4: 7-142751943-T-C
• MyVariant Identifiers: chr7:g.142459794T>C (hg19) ; chr7:g.142751943T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142751943T>C , CM000669.2:g.142751943T>C	GRCh38
NC_000007.13:g.142459794T>C , CM000669.1:g.142459794T>C	GRCh37
NC_000007.12:g.142139368T>C	NCBI36
NG_008307.3:g.7460T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.370T>C (PRSS1) MANE Select	ENSP00000308720.7:p.Ser124Pro
ENST00000311737.11:c.370T>C (PRSS1)	ENSP00000308720.7:p.Ser124Pro
ENST00000463701.1:n.834T>C (PRSS1)
ENST00000485223.1:n.1368T>C (PRSS1)
ENST00000486171.5:c.412T>C (PRSS1)	ENSP00000417854.1:p.Ser138Pro
ENST00000492062.1:c.220T>C (PRSS1)	ENSP00000419912.1:p.Ser74Pro
ENST00000610416.2:c.370+30757T>C (TRBC1)	ENSP00000482915.1:n.370+30757T>C
ENST00000612126.4:c.370T>C (PRSS1)	ENSP00000479959.1:p.Ser124Pro
ENST00000619214.4:c.340T>C (PRSS1)	ENSP00000481361.1:p.Ser114Pro
ENST00000633114.1:c.321+49T>C (PRSS2)	ENSP00000487822.1:n.321+49T>C
ENST00000634019.1:c.82+3152T>C (PRSS2)	ENSP00000488594.1:n.82+3152T>C
NM_002769.4:c.370T>C (PRSS1)	NP_002760.1:p.Ser124Pro
XM_011516411.1:c.1045T>C (PRSS1)	XP_011514713.1:p.Ser349Pro
NM_002769.5:c.370T>C (PRSS1) MANE Select	NP_002760.1:p.Ser124Pro
NR_172947.1:n.312T>C (PRSS1)
NR_172948.1:n.309T>C (PRSS1)
NR_172949.1:n.309T>C (PRSS1)
NR_172950.1:n.223T>C (PRSS1)
NR_172951.1:n.157T>C (PRSS1)