Canonical Allele Identifier: CA369609018

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• ClinVar Variation Id: 1735580
• ClinVar RCV Id: RCV002366226
• MyVariant Identifiers: chr7:g.142459809C>A (hg19) ; chr7:g.142751958C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142751958C>A , CM000669.2:g.142751958C>A	GRCh38
NC_000007.13:g.142459809C>A , CM000669.1:g.142459809C>A	GRCh37
NC_000007.12:g.142139383C>A	NCBI36
NG_008307.3:g.7475C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.385C>A (PRSS1) MANE Select	ENSP00000308720.7:p.Pro129Thr
ENST00000311737.11:c.385C>A (PRSS1)	ENSP00000308720.7:p.Pro129Thr
ENST00000463701.1:n.849C>A (PRSS1)
ENST00000485223.1:n.1383C>A (PRSS1)
ENST00000486171.5:c.427C>A (PRSS1)	ENSP00000417854.1:p.Pro143Thr
ENST00000492062.1:c.235C>A (PRSS1)	ENSP00000419912.1:p.Pro79Thr
ENST00000610416.2:c.370+30772C>A (TRBC1)	ENSP00000482915.1:n.370+30772C>A
ENST00000612126.4:c.385C>A (PRSS1)	ENSP00000479959.1:p.Pro129Thr
ENST00000619214.4:c.355C>A (PRSS1)	ENSP00000481361.1:p.Pro119Thr
ENST00000633114.1:c.321+64C>A (PRSS2)	ENSP00000487822.1:n.321+64C>A
ENST00000634019.1:c.82+3167C>A (PRSS2)	ENSP00000488594.1:n.82+3167C>A
NM_002769.4:c.385C>A (PRSS1)	NP_002760.1:p.Pro129Thr
XM_011516411.1:c.1060C>A (PRSS1)	XP_011514713.1:p.Pro354Thr
NM_002769.5:c.385C>A (PRSS1) MANE Select	NP_002760.1:p.Pro129Thr
NR_172947.1:n.327C>A (PRSS1)
NR_172948.1:n.324C>A (PRSS1)
NR_172949.1:n.324C>A (PRSS1)
NR_172950.1:n.238C>A (PRSS1)
NR_172951.1:n.172C>A (PRSS1)