Canonical Allele Identifier: CA369609112

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• ClinVar Variation Id: 1738132
• ClinVar RCV Id: RCV002333111
• COSMIC: COSM1263194
• MyVariant Identifiers: chr7:g.142459837A>C (hg19) ; chr7:g.142751986A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.413A>C (PRSS1) MANE Select	ENSP00000308720.7:p.Lys138Thr
ENST00000311737.11:c.413A>C (PRSS1)	ENSP00000308720.7:p.Lys138Thr
ENST00000463701.1:n.877A>C (PRSS1)
ENST00000485223.1:n.1411A>C (PRSS1)
ENST00000486171.5:c.455A>C (PRSS1)	ENSP00000417854.1:p.Lys152Thr
ENST00000492062.1:c.263A>C (PRSS1)	ENSP00000419912.1:p.Lys88Thr
ENST00000610416.2:c.370+30800A>C (TRBC1)	ENSP00000482915.1:n.370+30800A>C
ENST00000612126.4:c.413A>C (PRSS1)	ENSP00000479959.1:p.Lys138Thr
ENST00000619214.4:c.383A>C (PRSS1)	ENSP00000481361.1:p.Lys128Thr
ENST00000633114.1:c.321+92A>C (PRSS2)	ENSP00000487822.1:n.321+92A>C
ENST00000634019.1:c.82+3195A>C (PRSS2)	ENSP00000488594.1:n.82+3195A>C
NM_002769.4:c.413A>C (PRSS1)	NP_002760.1:p.Lys138Thr
XM_011516411.1:c.1088A>C (PRSS1)	XP_011514713.1:p.Lys363Thr
NM_002769.5:c.413A>C (PRSS1) MANE Select	NP_002760.1:p.Lys138Thr
NR_172947.1:n.355A>C (PRSS1)
NR_172948.1:n.352A>C (PRSS1)
NR_172949.1:n.352A>C (PRSS1)
NR_172950.1:n.266A>C (PRSS1)
NR_172951.1:n.200A>C (PRSS1)