Canonical Allele Identifier: CA4529710

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• ClinVar Variation Id: 403350
• ClinVar RCV Id: RCV000455871 ; RCV000463153
• dbSNP Id: rs143909348
• ExAC: 7:142458566 G / A
• gnomAD v2: 7-142458566-G-A
• gnomAD v3: 7-142750715-G-A
• gnomAD v4: 7-142750715-G-A
• MyVariant Identifiers: chr7:g.142458566G>A (hg19) ; chr7:g.142750715G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142750715G>A , CM000669.2:g.142750715G>A	GRCh38
NC_000007.13:g.142458566G>A , CM000669.1:g.142458566G>A	GRCh37
NC_000007.12:g.142138140G>A	NCBI36
NG_008307.3:g.6232G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.200+1G>A (PRSS1) MANE Select	ENSP00000308720.7:n.200+1G>A
ENST00000311737.11:c.200+1G>A (PRSS1)	ENSP00000308720.7:n.200+1G>A
ENST00000485223.1:n.140G>A (PRSS1)
ENST00000486171.5:c.200+1G>A (PRSS1)	ENSP00000417854.1:n.200+1G>A
ENST00000492062.1:c.50+1G>A (PRSS1)	ENSP00000419912.1:n.50+1G>A
ENST00000497041.1:n.205G>A (PRSS1)
ENST00000610416.2:c.370+29529G>A (TRBC1)	ENSP00000482915.1:n.370+29529G>A
ENST00000612126.4:c.200+1G>A (PRSS1)	ENSP00000479959.1:n.200+1G>A
ENST00000619214.4:c.200+1G>A (PRSS1)	ENSP00000481361.1:n.200+1G>A
ENST00000633114.1:c.200+1G>A (PRSS2)	ENSP00000487822.1:n.200+1G>A
ENST00000634019.1:c.82+1924G>A (PRSS2)	ENSP00000488594.1:n.82+1924G>A
NM_002769.4:c.200+1G>A (PRSS1)	NP_002760.1:n.200+1G>A
XM_011516411.1:c.875+1G>A (PRSS1)	XP_011514713.1:n.875+1G>A
NM_002769.5:c.200+1G>A (PRSS1) MANE Select	NP_002760.1:n.200+1G>A
NR_172947.1:n.197+17G>A (PRSS1)
NR_172948.1:n.197+17G>A (PRSS1)
NR_172949.1:n.139+1G>A (PRSS1)
NR_172950.1:n.54-1059G>A (PRSS1)
NR_172951.1:n.139+1G>A (PRSS1)