Canonical Allele Identifier: CA369608706

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• ClinVar Variation Id: 1419861
• ClinVar RCV Id: RCV001910675
• dbSNP Id: rs373659879
• MyVariant Identifiers: chr7:g.142459721C>A (hg19) ; chr7:g.142751870C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142751870C>A , CM000669.2:g.142751870C>A	GRCh38
NC_000007.13:g.142459721C>A , CM000669.1:g.142459721C>A	GRCh37
NC_000007.12:g.142139295C>A	NCBI36
NG_008307.3:g.7387C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.297C>A (PRSS1) MANE Select	ENSP00000308720.7:p.Tyr99Ter
ENST00000311737.11:c.297C>A (PRSS1)	ENSP00000308720.7:p.Tyr99Ter
ENST00000463701.1:n.761C>A (PRSS1)
ENST00000485223.1:n.1295C>A (PRSS1)
ENST00000486171.5:c.339C>A (PRSS1)	ENSP00000417854.1:p.Tyr113Ter
ENST00000492062.1:c.147C>A (PRSS1)	ENSP00000419912.1:p.Tyr49Ter
ENST00000610416.2:c.370+30684C>A (TRBC1)	ENSP00000482915.1:n.370+30684C>A
ENST00000612126.4:c.297C>A (PRSS1)	ENSP00000479959.1:p.Tyr99Ter
ENST00000619214.4:c.267C>A (PRSS1)	ENSP00000481361.1:p.Tyr89Ter
ENST00000633114.1:c.297C>A (PRSS2)	ENSP00000487822.1:p.Tyr99Ter
ENST00000634019.1:c.82+3079C>A (PRSS2)	ENSP00000488594.1:n.82+3079C>A
NM_002769.4:c.297C>A (PRSS1)	NP_002760.1:p.Tyr99Ter
XM_011516411.1:c.972C>A (PRSS1)	XP_011514713.1:p.Tyr324Ter
NM_002769.5:c.297C>A (PRSS1) MANE Select	NP_002760.1:p.Tyr99Ter
NR_172947.1:n.239C>A (PRSS1)
NR_172948.1:n.236C>A (PRSS1)
NR_172949.1:n.236C>A (PRSS1)
NR_172950.1:n.150C>A (PRSS1)
NR_172951.1:n.140-56C>A (PRSS1)