Canonical Allele Identifier: CA458538274

Linked Data

MyVariant Identifiers: chr7:g.142459772T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142751921T>C , CM000669.2:g.142751921T>C GRCh38
NC_000007.13:g.142459772T>C , CM000669.1:g.142459772T>C GRCh37
NC_000007.12:g.142139346T>C NCBI36
NG_008307.3:g.7438T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311737.12:c.348T>C (PRSS1) MANE Select ENSP00000308720.7:p.Arg116=
ENST00000311737.11:c.348T>C (PRSS1) ENSP00000308720.7:p.Arg116=
ENST00000463701.1:n.812T>C (PRSS1)
ENST00000485223.1:n.1346T>C (PRSS1)
ENST00000486171.5:c.390T>C (PRSS1) ENSP00000417854.1:p.Arg130=
ENST00000492062.1:c.198T>C (PRSS1) ENSP00000419912.1:p.Arg66=
ENST00000610416.2:c.370+30735T>C (TRBC1) ENSP00000482915.1:n.370+30735T>C
ENST00000612126.4:c.348T>C (PRSS1) ENSP00000479959.1:p.Arg116=
ENST00000619214.4:c.318T>C (PRSS1) ENSP00000481361.1:p.Arg106=
ENST00000633114.1:c.321+27T>C (PRSS2) ENSP00000487822.1:n.321+27T>C
ENST00000634019.1:c.82+3130T>C (PRSS2) ENSP00000488594.1:n.82+3130T>C
NM_002769.4:c.348T>C (PRSS1) NP_002760.1:p.Arg116=
XM_011516411.1:c.1023T>C (PRSS1) XP_011514713.1:p.Arg341=
NM_002769.5:c.348T>C (PRSS1) MANE Select NP_002760.1:p.Arg116=
NR_172947.1:n.290T>C (PRSS1)
NR_172948.1:n.287T>C (PRSS1)
NR_172949.1:n.287T>C (PRSS1)
NR_172950.1:n.201T>C (PRSS1)
NR_172951.1:n.140-5T>C (PRSS1)