Canonical Allele Identifier: CA369608575

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• dbSNP Id: rs1298928593
• gnomAD v2: 7-142459686-A-T
• gnomAD v4: 7-142751835-A-T
• MyVariant Identifiers: chr7:g.142459686A>T (hg19) ; chr7:g.142751835A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142751835A>T , CM000669.2:g.142751835A>T	GRCh38
NC_000007.13:g.142459686A>T , CM000669.1:g.142459686A>T	GRCh37
NC_000007.12:g.142139260A>T	NCBI36
NG_008307.3:g.7352A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.262A>T (PRSS1) MANE Select	ENSP00000308720.7:p.Ile88Phe
ENST00000311737.11:c.262A>T (PRSS1)	ENSP00000308720.7:p.Ile88Phe
ENST00000463701.1:n.726A>T (PRSS1)
ENST00000485223.1:n.1260A>T (PRSS1)
ENST00000486171.5:c.304A>T (PRSS1)	ENSP00000417854.1:p.Ile102Phe
ENST00000492062.1:c.112A>T (PRSS1)	ENSP00000419912.1:p.Ile38Phe
ENST00000610416.2:c.370+30649A>T (TRBC1)	ENSP00000482915.1:n.370+30649A>T
ENST00000612126.4:c.262A>T (PRSS1)	ENSP00000479959.1:p.Ile88Phe
ENST00000619214.4:c.234-2A>T (PRSS1)	ENSP00000481361.1:n.234-2A>T
ENST00000633114.1:c.262A>T (PRSS2)	ENSP00000487822.1:p.Ile88Phe
ENST00000634019.1:c.82+3044A>T (PRSS2)	ENSP00000488594.1:n.82+3044A>T
NM_002769.4:c.262A>T (PRSS1)	NP_002760.1:p.Ile88Phe
XM_011516411.1:c.937A>T (PRSS1)	XP_011514713.1:p.Ile313Phe
NM_002769.5:c.262A>T (PRSS1) MANE Select	NP_002760.1:p.Ile88Phe
NR_172947.1:n.204A>T (PRSS1)
NR_172948.1:n.201A>T (PRSS1)
NR_172949.1:n.201A>T (PRSS1)
NR_172950.1:n.115A>T (PRSS1)
NR_172951.1:n.140-91A>T (PRSS1)