Canonical Allele Identifier: CA458266302

Gene: PRSS1 TRBC1 PRSS2

Linked Data

• ClinVar Variation Id: 1669105
• ClinVar RCV Id: RCV002194448
• dbSNP Id: rs749482440
• gnomAD v2: 7-142459838-G-A
• gnomAD v4: 7-142751987-G-A
• MyVariant Identifiers: chr7:g.142459838G>A (hg19) ; chr7:g.142751987G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142751987G>A , CM000669.2:g.142751987G>A	GRCh38
NC_000007.13:g.142459838G>A , CM000669.1:g.142459838G>A	GRCh37
NC_000007.12:g.142139412G>A	NCBI36
NG_008307.3:g.7504G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311737.12:c.414G>A (PRSS1) MANE Select	ENSP00000308720.7:p.Lys138=
ENST00000311737.11:c.414G>A (PRSS1)	ENSP00000308720.7:p.Lys138=
ENST00000463701.1:n.878G>A (PRSS1)
ENST00000485223.1:n.1412G>A (PRSS1)
ENST00000486171.5:c.456G>A (PRSS1)	ENSP00000417854.1:p.Lys152=
ENST00000492062.1:c.264G>A (PRSS1)	ENSP00000419912.1:p.Lys88=
ENST00000610416.2:c.370+30801G>A (TRBC1)	ENSP00000482915.1:n.370+30801G>A
ENST00000612126.4:c.414G>A (PRSS1)	ENSP00000479959.1:p.Lys138=
ENST00000619214.4:c.384G>A (PRSS1)	ENSP00000481361.1:p.Lys128=
ENST00000633114.1:c.321+93G>A (PRSS2)	ENSP00000487822.1:n.321+93G>A
ENST00000634019.1:c.82+3196G>A (PRSS2)	ENSP00000488594.1:n.82+3196G>A
NM_002769.4:c.414G>A (PRSS1)	NP_002760.1:p.Lys138=
XM_011516411.1:c.1089G>A (PRSS1)	XP_011514713.1:p.Lys363=
NM_002769.5:c.414G>A (PRSS1) MANE Select	NP_002760.1:p.Lys138=
NR_172947.1:n.356G>A (PRSS1)
NR_172948.1:n.353G>A (PRSS1)
NR_172949.1:n.353G>A (PRSS1)
NR_172950.1:n.267G>A (PRSS1)
NR_172951.1:n.201G>A (PRSS1)