Canonical Allele Identifier: CA4529951

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• ClinVar Variation Id: 1005644
• ClinVar RCV Id: RCV001302552
• dbSNP Id: rs752456117
• ExAC: 7:142459824 G / A
• gnomAD v2: 7-142459824-G-A
• gnomAD v3: 7-142751973-G-A
• gnomAD v4: 7-142751973-G-A
• MyVariant Identifiers: chr7:g.142459824G>A (hg19) ; chr7:g.142751973G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142751973G>A , CM000669.2:g.142751973G>A	GRCh38
NC_000007.13:g.142459824G>A , CM000669.1:g.142459824G>A	GRCh37
NC_000007.12:g.142139398G>A	NCBI36
NG_008307.3:g.7490G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000311737.12:c.400G>A (PRSS1) MANE Select	ENSP00000308720.7:p.Ala134Thr
ENST00000311737.11:c.400G>A (PRSS1)	ENSP00000308720.7:p.Ala134Thr
ENST00000463701.1:n.864G>A (PRSS1)
ENST00000485223.1:n.1398G>A (PRSS1)
ENST00000486171.5:c.442G>A (PRSS1)	ENSP00000417854.1:p.Ala148Thr
ENST00000492062.1:c.250G>A (PRSS1)	ENSP00000419912.1:p.Ala84Thr
ENST00000610416.2:c.370+30787G>A (TRBC1)	ENSP00000482915.1:n.370+30787G>A
ENST00000612126.4:c.400G>A (PRSS1)	ENSP00000479959.1:p.Ala134Thr
ENST00000619214.4:c.370G>A (PRSS1)	ENSP00000481361.1:p.Ala124Thr
ENST00000633114.1:c.321+79G>A (PRSS2)	ENSP00000487822.1:n.321+79G>A
ENST00000634019.1:c.82+3182G>A (PRSS2)	ENSP00000488594.1:n.82+3182G>A
NM_002769.4:c.400G>A (PRSS1)	NP_002760.1:p.Ala134Thr
XM_011516411.1:c.1075G>A (PRSS1)	XP_011514713.1:p.Ala359Thr
NM_002769.5:c.400G>A (PRSS1) MANE Select	NP_002760.1:p.Ala134Thr
NR_172947.1:n.342G>A (PRSS1)
NR_172948.1:n.339G>A (PRSS1)
NR_172949.1:n.339G>A (PRSS1)
NR_172950.1:n.253G>A (PRSS1)
NR_172951.1:n.187G>A (PRSS1)