Canonical Allele Identifier: CA369609016

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• ClinVar Variation Id: 1735588
• ClinVar RCV Id: RCV002355534
• dbSNP Id: rs1798775957
• gnomAD v4: 7-142751958-C-T
• MyVariant Identifiers: chr7:g.142459809C>T (hg19) ; chr7:g.142751958C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.385C>T (PRSS1) MANE Select	ENSP00000308720.7:p.Pro129Ser
ENST00000311737.11:c.385C>T (PRSS1)	ENSP00000308720.7:p.Pro129Ser
ENST00000463701.1:n.849C>T (PRSS1)
ENST00000485223.1:n.1383C>T (PRSS1)
ENST00000486171.5:c.427C>T (PRSS1)	ENSP00000417854.1:p.Pro143Ser
ENST00000492062.1:c.235C>T (PRSS1)	ENSP00000419912.1:p.Pro79Ser
ENST00000610416.2:c.370+30772C>T (TRBC1)	ENSP00000482915.1:n.370+30772C>T
ENST00000612126.4:c.385C>T (PRSS1)	ENSP00000479959.1:p.Pro129Ser
ENST00000619214.4:c.355C>T (PRSS1)	ENSP00000481361.1:p.Pro119Ser
ENST00000633114.1:c.321+64C>T (PRSS2)	ENSP00000487822.1:n.321+64C>T
ENST00000634019.1:c.82+3167C>T (PRSS2)	ENSP00000488594.1:n.82+3167C>T
NM_002769.4:c.385C>T (PRSS1)	NP_002760.1:p.Pro129Ser
XM_011516411.1:c.1060C>T (PRSS1)	XP_011514713.1:p.Pro354Ser
NM_002769.5:c.385C>T (PRSS1) MANE Select	NP_002760.1:p.Pro129Ser
NR_172947.1:n.327C>T (PRSS1)
NR_172948.1:n.324C>T (PRSS1)
NR_172949.1:n.324C>T (PRSS1)
NR_172950.1:n.238C>T (PRSS1)
NR_172951.1:n.172C>T (PRSS1)