Canonical Allele Identifier: CA458538296

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• ClinVar Variation Id: 1734925
• ClinVar RCV Id: RCV002363908
• MyVariant Identifiers: chr7:g.142459802C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142751951C>T , CM000669.2:g.142751951C>T	GRCh38
NC_000007.13:g.142459802C>T , CM000669.1:g.142459802C>T	GRCh37
NC_000007.12:g.142139376C>T	NCBI36
NG_008307.3:g.7468C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.378C>T (PRSS1) MANE Select	ENSP00000308720.7:p.Ile126=
ENST00000311737.11:c.378C>T (PRSS1)	ENSP00000308720.7:p.Ile126=
ENST00000463701.1:n.842C>T (PRSS1)
ENST00000485223.1:n.1376C>T (PRSS1)
ENST00000486171.5:c.420C>T (PRSS1)	ENSP00000417854.1:p.Ile140=
ENST00000492062.1:c.228C>T (PRSS1)	ENSP00000419912.1:p.Ile76=
ENST00000610416.2:c.370+30765C>T (TRBC1)	ENSP00000482915.1:n.370+30765C>T
ENST00000612126.4:c.378C>T (PRSS1)	ENSP00000479959.1:p.Ile126=
ENST00000619214.4:c.348C>T (PRSS1)	ENSP00000481361.1:p.Ile116=
ENST00000633114.1:c.321+57C>T (PRSS2)	ENSP00000487822.1:n.321+57C>T
ENST00000634019.1:c.82+3160C>T (PRSS2)	ENSP00000488594.1:n.82+3160C>T
NM_002769.4:c.378C>T (PRSS1)	NP_002760.1:p.Ile126=
XM_011516411.1:c.1053C>T (PRSS1)	XP_011514713.1:p.Ile351=
NM_002769.5:c.378C>T (PRSS1) MANE Select	NP_002760.1:p.Ile126=
NR_172947.1:n.320C>T (PRSS1)
NR_172948.1:n.317C>T (PRSS1)
NR_172949.1:n.317C>T (PRSS1)
NR_172950.1:n.231C>T (PRSS1)
NR_172951.1:n.165C>T (PRSS1)