Canonical Allele Identifier: CA4530125

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• ClinVar Variation Id: 258802
• ClinVar RCV Id: RCV000244167 ; RCV000472464
• dbSNP Id: rs189270875
• ExAC: 7:142460750 G / C
• gnomAD v2: 7-142460750-G-C
• gnomAD v3: 7-142752899-G-C
• gnomAD v4: 7-142752899-G-C
• MyVariant Identifiers: chr7:g.142460750G>C (hg19) ; chr7:g.142752899G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142752899G>C , CM000669.2:g.142752899G>C	GRCh38
NC_000007.13:g.142460750G>C , CM000669.1:g.142460750G>C	GRCh37
NC_000007.12:g.142140324G>C	NCBI36
NG_008307.3:g.8416G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.623G>C (PRSS1) MANE Select	ENSP00000308720.7:p.Gly208Ala
ENST00000311737.11:c.623G>C (PRSS1)	ENSP00000308720.7:p.Gly208Ala
ENST00000463701.1:n.1087G>C (PRSS1)
ENST00000486171.5:c.665G>C (PRSS1)	ENSP00000417854.1:p.Gly222Ala
ENST00000492062.1:c.456G>C (PRSS1)	ENSP00000419912.1:n.456G>C
ENST00000610416.2:c.370+31713G>C (TRBC1)	ENSP00000482915.1:n.370+31713G>C
ENST00000612126.4:c.591+332G>C (PRSS1)	ENSP00000479959.1:n.591+332G>C
ENST00000619214.4:c.593G>C (PRSS1)	ENSP00000481361.1:p.Gly198Ala
ENST00000633114.1:c.321+1005G>C (PRSS2)	ENSP00000487822.1:n.321+1005G>C
ENST00000634019.1:c.82+4108G>C (PRSS2)	ENSP00000488594.1:n.82+4108G>C
NM_002769.4:c.623G>C (PRSS1)	NP_002760.1:p.Gly208Ala
XM_011516411.1:c.1298G>C (PRSS1)	XP_011514713.1:p.Gly433Ala
NM_002769.5:c.623G>C (PRSS1) MANE Select	NP_002760.1:p.Gly208Ala
NR_172947.1:n.565G>C (PRSS1)
NR_172948.1:n.562G>C (PRSS1)
NR_172949.1:n.562G>C (PRSS1)
NR_172950.1:n.476G>C (PRSS1)
NR_172951.1:n.410G>C (PRSS1)