Canonical Allele Identifier: CA458522689

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• MyVariant Identifiers: chr7:g.142458419T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142750568T>C , CM000669.2:g.142750568T>C	GRCh38
NC_000007.13:g.142458419T>C , CM000669.1:g.142458419T>C	GRCh37
NC_000007.12:g.142137993T>C	NCBI36
NG_008307.3:g.6085T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.54T>C (PRSS1) MANE Select	ENSP00000308720.7:p.Phe18=
ENST00000311737.11:c.54T>C (PRSS1)	ENSP00000308720.7:p.Phe18=
ENST00000485223.1:n.54-61T>C (PRSS1)
ENST00000486171.5:c.54T>C (PRSS1)	ENSP00000417854.1:p.Phe18=
ENST00000497041.1:n.58T>C (PRSS1)
ENST00000610416.2:c.370+29382T>C (TRBC1)	ENSP00000482915.1:n.370+29382T>C
ENST00000612126.4:c.54T>C (PRSS1)	ENSP00000479959.1:p.Phe18=
ENST00000619214.4:c.54T>C (PRSS1)	ENSP00000481361.1:p.Phe18=
ENST00000633114.1:c.54T>C (PRSS2)	ENSP00000487822.1:p.Phe18=
ENST00000634019.1:c.82+1777T>C (PRSS2)	ENSP00000488594.1:n.82+1777T>C
NM_002769.4:c.54T>C (PRSS1)	NP_002760.1:p.Phe18=
XM_011516411.1:c.729T>C (PRSS1)	XP_011514713.1:p.Phe243=
NM_002769.5:c.54T>C (PRSS1) MANE Select	NP_002760.1:p.Phe18=
NR_172947.1:n.67T>C (PRSS1)
NR_172948.1:n.67T>C (PRSS1)
NR_172949.1:n.54-61T>C (PRSS1)
NR_172950.1:n.53+1044T>C (PRSS1)
NR_172951.1:n.54-61T>C (PRSS1)