Canonical Allele Identifier: CA260519

Gene: PRSS1

Linked Data

• ClinVar Variation Id: 36705
• ClinVar RCV Id: RCV000030384
• dbSNP Id: rs193922656
• MyVariant Identifiers: chr7:g.142459822C>G (hg19) ; chr7:g.142751971C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142751971C>G , CM000669.2:g.142751971C>G	GRCh38
NC_000007.13:g.142459822C>G , CM000669.1:g.142459822C>G	GRCh37
NC_000007.12:g.142139396C>G	NCBI36
NG_008307.3:g.7488C>G

Transcript Alleles

HGVS	Amino-acid change
NM_002769.4:c.398C>G	NP_002760.1:p.Pro133Arg
XM_011516411.1:c.1073C>G	XP_011514713.1:p.Pro358Arg
NM_002769.5:c.398C>G MANE Select	NP_002760.1:p.Pro133Arg
ENST00000311737.11:c.398C>G	ENSP00000308720.7:p.Pro133Arg
ENST00000463701.1:n.862C>G
ENST00000485223.1:n.1396C>G
ENST00000486171.5:c.440C>G	ENSP00000417854.1:p.Pro147Arg
ENST00000492062.1:n.248C>G	ENSP00000419912.1:p.Pro83Arg
ENST00000610416.2:c.370+30785C>G	ENSP00000482915.1:p.=
ENST00000612126.4:c.398C>G	ENSP00000479959.1:p.Pro133Arg
ENST00000619214.4:c.368C>G	ENSP00000481361.1:p.Pro123Arg
ENST00000633114.1:c.321+77C>G	ENSP00000487822.1:p.=
ENST00000634019.1:c.82+3180C>G	ENSP00000488594.1:p.=