Canonical Allele Identifier: CA369609114
Gene: PRSS1 HGNC NCBI
TRBC1 HGNC NCBI
PRSS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2448226
ClinVar RCV Id: RCV003181543
gnomAD v4: 7-142751986-A-G
MyVariant Identifiers: chr7:g.142459837A>G (hg19) chr7:g.142751986A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142751986A>G , CM000669.2:g.142751986A>G GRCh38
NC_000007.13:g.142459837A>G , CM000669.1:g.142459837A>G GRCh37
NC_000007.12:g.142139411A>G NCBI36
NG_008307.3:g.7503A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000311737.12:c.413A>G (PRSS1) MANE Select ENSP00000308720.7:p.Lys138Arg
ENST00000311737.11:c.413A>G (PRSS1) ENSP00000308720.7:p.Lys138Arg
ENST00000463701.1:n.877A>G (PRSS1)
ENST00000485223.1:n.1411A>G (PRSS1)
ENST00000486171.5:c.455A>G (PRSS1) ENSP00000417854.1:p.Lys152Arg
ENST00000492062.1:c.263A>G (PRSS1) ENSP00000419912.1:p.Lys88Arg
ENST00000610416.2:c.370+30800A>G (TRBC1) ENSP00000482915.1:n.370+30800A>G
ENST00000612126.4:c.413A>G (PRSS1) ENSP00000479959.1:p.Lys138Arg
ENST00000619214.4:c.383A>G (PRSS1) ENSP00000481361.1:p.Lys128Arg
ENST00000633114.1:c.321+92A>G (PRSS2) ENSP00000487822.1:n.321+92A>G
ENST00000634019.1:c.82+3195A>G (PRSS2) ENSP00000488594.1:n.82+3195A>G
NM_002769.4:c.413A>G (PRSS1) NP_002760.1:p.Lys138Arg
XM_011516411.1:c.1088A>G (PRSS1) XP_011514713.1:p.Lys363Arg
NM_002769.5:c.413A>G (PRSS1) MANE Select NP_002760.1:p.Lys138Arg
NR_172947.1:n.355A>G (PRSS1)
NR_172948.1:n.352A>G (PRSS1)
NR_172949.1:n.352A>G (PRSS1)
NR_172950.1:n.266A>G (PRSS1)
NR_172951.1:n.200A>G (PRSS1)
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