Canonical Allele Identifier: CA4529937

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• ClinVar Variation Id: 824064
• ClinVar RCV Id: RCV001295337
• dbSNP Id: rs144403091
• ExAC: 7:142459791 G / T
• gnomAD v2: 7-142459791-G-T
• gnomAD v3: 7-142751940-G-T
• gnomAD v4: 7-142751940-G-T
• MyVariant Identifiers: chr7:g.142459791G>T (hg19) ; chr7:g.142751940G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142751940G>T , CM000669.2:g.142751940G>T	GRCh38
NC_000007.13:g.142459791G>T , CM000669.1:g.142459791G>T	GRCh37
NC_000007.12:g.142139365G>T	NCBI36
NG_008307.3:g.7457G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.367G>T (PRSS1) MANE Select	ENSP00000308720.7:p.Val123Leu
ENST00000311737.11:c.367G>T (PRSS1)	ENSP00000308720.7:p.Val123Leu
ENST00000463701.1:n.831G>T (PRSS1)
ENST00000485223.1:n.1365G>T (PRSS1)
ENST00000486171.5:c.409G>T (PRSS1)	ENSP00000417854.1:p.Val137Leu
ENST00000492062.1:c.217G>T (PRSS1)	ENSP00000419912.1:p.Val73Leu
ENST00000610416.2:c.370+30754G>T (TRBC1)	ENSP00000482915.1:n.370+30754G>T
ENST00000612126.4:c.367G>T (PRSS1)	ENSP00000479959.1:p.Val123Leu
ENST00000619214.4:c.337G>T (PRSS1)	ENSP00000481361.1:p.Val113Leu
ENST00000633114.1:c.321+46G>T (PRSS2)	ENSP00000487822.1:n.321+46G>T
ENST00000634019.1:c.82+3149G>T (PRSS2)	ENSP00000488594.1:n.82+3149G>T
NM_002769.4:c.367G>T (PRSS1)	NP_002760.1:p.Val123Leu
XM_011516411.1:c.1042G>T (PRSS1)	XP_011514713.1:p.Val348Leu
NM_002769.5:c.367G>T (PRSS1) MANE Select	NP_002760.1:p.Val123Leu
NR_172947.1:n.309G>T (PRSS1)
NR_172948.1:n.306G>T (PRSS1)
NR_172949.1:n.306G>T (PRSS1)
NR_172950.1:n.220G>T (PRSS1)
NR_172951.1:n.154G>T (PRSS1)