Canonical Allele Identifier: CA4529596

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• ClinVar Variation Id: 416606
• ClinVar RCV Id: RCV000472576 ; RCV003656117
• dbSNP Id: rs199613498
• ExAC: 7:142457385 A / G
• gnomAD v2: 7-142457385-A-G
• gnomAD v3: 7-142749534-A-G
• gnomAD v4: 7-142749534-A-G
• MyVariant Identifiers: chr7:g.142457385A>G (hg19) ; chr7:g.142749534A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142749534A>G , CM000669.2:g.142749534A>G	GRCh38
NC_000007.13:g.142457385A>G , CM000669.1:g.142457385A>G	GRCh37
NC_000007.12:g.142136959A>G	NCBI36
NG_008307.3:g.5051A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.40+10A>G (PRSS1) MANE Select	ENSP00000308720.7:n.40+10A>G
ENST00000311737.11:c.40+10A>G (PRSS1)	ENSP00000308720.7:n.40+10A>G
ENST00000485223.1:n.53+10A>G (PRSS1)
ENST00000486171.5:c.40+10A>G (PRSS1)	ENSP00000417854.1:n.40+10A>G
ENST00000497041.1:n.44+10A>G (PRSS1)
ENST00000610416.2:c.370+28348A>G (TRBC1)	ENSP00000482915.1:n.370+28348A>G
ENST00000612126.4:c.40+10A>G (PRSS1)	ENSP00000479959.1:n.40+10A>G
ENST00000619214.4:c.40+10A>G (PRSS1)	ENSP00000481361.1:n.40+10A>G
ENST00000633114.1:c.40+10A>G (PRSS2)	ENSP00000487822.1:n.40+10A>G
ENST00000634019.1:c.82+743A>G (PRSS2)	ENSP00000488594.1:n.82+743A>G
NM_002769.4:c.40+10A>G (PRSS1)	NP_002760.1:n.40+10A>G
XM_011516411.1:c.715+10A>G (PRSS1)	XP_011514713.1:n.715+10A>G
NM_002769.5:c.40+10A>G (PRSS1) MANE Select	NP_002760.1:n.40+10A>G
NR_172947.1:n.53+10A>G (PRSS1)
NR_172948.1:n.53+10A>G (PRSS1)
NR_172949.1:n.53+10A>G (PRSS1)
NR_172950.1:n.53+10A>G (PRSS1)
NR_172951.1:n.53+10A>G (PRSS1)