Canonical Allele Identifier: CA369608770

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• ClinVar Variation Id: 440201
• ClinVar RCV Id: RCV000507513 ; RCV004023438
• dbSNP Id: rs1554499091
• gnomAD v4: 7-142751884-T-C
• MyVariant Identifiers: chr7:g.142459735T>C (hg19) ; chr7:g.142751884T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142751884T>C , CM000669.2:g.142751884T>C	GRCh38
NC_000007.13:g.142459735T>C , CM000669.1:g.142459735T>C	GRCh37
NC_000007.12:g.142139309T>C	NCBI36
NG_008307.3:g.7401T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.311T>C (PRSS1) MANE Select	ENSP00000308720.7:p.Leu104Pro
ENST00000311737.11:c.311T>C (PRSS1)	ENSP00000308720.7:p.Leu104Pro
ENST00000463701.1:n.775T>C (PRSS1)
ENST00000485223.1:n.1309T>C (PRSS1)
ENST00000486171.5:c.353T>C (PRSS1)	ENSP00000417854.1:p.Leu118Pro
ENST00000492062.1:c.161T>C (PRSS1)	ENSP00000419912.1:p.Leu54Pro
ENST00000610416.2:c.370+30698T>C (TRBC1)	ENSP00000482915.1:n.370+30698T>C
ENST00000612126.4:c.311T>C (PRSS1)	ENSP00000479959.1:p.Leu104Pro
ENST00000619214.4:c.281T>C (PRSS1)	ENSP00000481361.1:p.Leu94Pro
ENST00000633114.1:c.311T>C (PRSS2)	ENSP00000487822.1:p.Leu104Pro
ENST00000634019.1:c.82+3093T>C (PRSS2)	ENSP00000488594.1:n.82+3093T>C
NM_002769.4:c.311T>C (PRSS1)	NP_002760.1:p.Leu104Pro
XM_011516411.1:c.986T>C (PRSS1)	XP_011514713.1:p.Leu329Pro
NM_002769.5:c.311T>C (PRSS1) MANE Select	NP_002760.1:p.Leu104Pro
NR_172947.1:n.253T>C (PRSS1)
NR_172948.1:n.250T>C (PRSS1)
NR_172949.1:n.250T>C (PRSS1)
NR_172950.1:n.164T>C (PRSS1)
NR_172951.1:n.140-42T>C (PRSS1)