Canonical Allele Identifier: CA273019

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• ClinVar Variation Id: 161986
• ClinVar RCV Id: RCV000149411
• dbSNP Id: rs199769221
• ExAC: 7:142459771 G / C
• gnomAD v2: 7-142459771-G-C
• gnomAD v3: 7-142751920-G-C
• gnomAD v4: 7-142751920-G-C
• MyVariant Identifiers: chr7:g.142459771G>C (hg19) ; chr7:g.142751920G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142751920G>C , CM000669.2:g.142751920G>C	GRCh38
NC_000007.13:g.142459771G>C , CM000669.1:g.142459771G>C	GRCh37
NC_000007.12:g.142139345G>C	NCBI36
NG_008307.3:g.7437G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000311737.12:c.347G>C (PRSS1) MANE Select	ENSP00000308720.7:p.Arg116Pro
ENST00000311737.11:c.347G>C (PRSS1)	ENSP00000308720.7:p.Arg116Pro
ENST00000463701.1:n.811G>C (PRSS1)
ENST00000485223.1:n.1345G>C (PRSS1)
ENST00000486171.5:c.389G>C (PRSS1)	ENSP00000417854.1:p.Arg130Pro
ENST00000492062.1:c.197G>C (PRSS1)	ENSP00000419912.1:p.Arg66Pro
ENST00000610416.2:c.370+30734G>C (TRBC1)	ENSP00000482915.1:n.370+30734G>C
ENST00000612126.4:c.347G>C (PRSS1)	ENSP00000479959.1:p.Arg116Pro
ENST00000619214.4:c.317G>C (PRSS1)	ENSP00000481361.1:p.Arg106Pro
ENST00000633114.1:c.321+26G>C (PRSS2)	ENSP00000487822.1:n.321+26G>C
ENST00000634019.1:c.82+3129G>C (PRSS2)	ENSP00000488594.1:n.82+3129G>C
NM_002769.4:c.347G>C (PRSS1)	NP_002760.1:p.Arg116Pro
XM_011516411.1:c.1022G>C (PRSS1)	XP_011514713.1:p.Arg341Pro
NM_002769.5:c.347G>C (PRSS1) MANE Select	NP_002760.1:p.Arg116Pro
NR_172947.1:n.289G>C (PRSS1)
NR_172948.1:n.286G>C (PRSS1)
NR_172949.1:n.286G>C (PRSS1)
NR_172950.1:n.200G>C (PRSS1)
NR_172951.1:n.140-6G>C (PRSS1)