Canonical Allele Identifier: CA458538231

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• ClinVar Variation Id: 1792184
• ClinVar RCV Id: RCV002431052
• dbSNP Id: rs1382183623
• MyVariant Identifiers: chr7:g.142459673G>C (hg19) ; chr7:g.142751822G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142751822G>C , CM000669.2:g.142751822G>C	GRCh38
NC_000007.13:g.142459673G>C , CM000669.1:g.142459673G>C	GRCh37
NC_000007.12:g.142139247G>C	NCBI36
NG_008307.3:g.7339G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.249G>C (PRSS1) MANE Select	ENSP00000308720.7:p.Gly83=
ENST00000311737.11:c.249G>C (PRSS1)	ENSP00000308720.7:p.Gly83=
ENST00000463701.1:n.713G>C (PRSS1)
ENST00000485223.1:n.1247G>C (PRSS1)
ENST00000486171.5:c.291G>C (PRSS1)	ENSP00000417854.1:p.Gly97=
ENST00000492062.1:c.99G>C (PRSS1)	ENSP00000419912.1:p.Gly33=
ENST00000610416.2:c.370+30636G>C (TRBC1)	ENSP00000482915.1:n.370+30636G>C
ENST00000612126.4:c.249G>C (PRSS1)	ENSP00000479959.1:p.Gly83=
ENST00000619214.4:c.234-15G>C (PRSS1)	ENSP00000481361.1:n.234-15G>C
ENST00000633114.1:c.249G>C (PRSS2)	ENSP00000487822.1:p.Gly83=
ENST00000634019.1:c.82+3031G>C (PRSS2)	ENSP00000488594.1:n.82+3031G>C
NM_002769.4:c.249G>C (PRSS1)	NP_002760.1:p.Gly83=
XM_011516411.1:c.924G>C (PRSS1)	XP_011514713.1:p.Gly308=
NM_002769.5:c.249G>C (PRSS1) MANE Select	NP_002760.1:p.Gly83=
NR_172947.1:n.198-7G>C (PRSS1)
NR_172948.1:n.198-10G>C (PRSS1)
NR_172949.1:n.188G>C (PRSS1)
NR_172950.1:n.102G>C (PRSS1)
NR_172951.1:n.140-104G>C (PRSS1)