Canonical Allele Identifier: CA369608763
Gene: PRSS1 HGNC NCBI
TRBC1 HGNC NCBI
PRSS2 HGNC NCBI

Linked Data

dbSNP Id: rs1195251647
gnomAD v3: 7-142751881-C-T
gnomAD v4: 7-142751881-C-T
MyVariant Identifiers: chr7:g.142459732C>T (hg19) chr7:g.142751881C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142751881C>T , CM000669.2:g.142751881C>T GRCh38
NC_000007.13:g.142459732C>T , CM000669.1:g.142459732C>T GRCh37
NC_000007.12:g.142139306C>T NCBI36
NG_008307.3:g.7398C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311737.12:c.308C>T (PRSS1) MANE Select ENSP00000308720.7:p.Thr103Ile
ENST00000311737.11:c.308C>T (PRSS1) ENSP00000308720.7:p.Thr103Ile
ENST00000463701.1:n.772C>T (PRSS1)
ENST00000485223.1:n.1306C>T (PRSS1)
ENST00000486171.5:c.350C>T (PRSS1) ENSP00000417854.1:p.Thr117Ile
ENST00000492062.1:c.158C>T (PRSS1) ENSP00000419912.1:p.Thr53Ile
ENST00000610416.2:c.370+30695C>T (TRBC1) ENSP00000482915.1:n.370+30695C>T
ENST00000612126.4:c.308C>T (PRSS1) ENSP00000479959.1:p.Thr103Ile
ENST00000619214.4:c.278C>T (PRSS1) ENSP00000481361.1:p.Thr93Ile
ENST00000633114.1:c.308C>T (PRSS2) ENSP00000487822.1:p.Thr103Ile
ENST00000634019.1:c.82+3090C>T (PRSS2) ENSP00000488594.1:n.82+3090C>T
NM_002769.4:c.308C>T (PRSS1) NP_002760.1:p.Thr103Ile
XM_011516411.1:c.983C>T (PRSS1) XP_011514713.1:p.Thr328Ile
NM_002769.5:c.308C>T (PRSS1) MANE Select NP_002760.1:p.Thr103Ile
NR_172947.1:n.250C>T (PRSS1)
NR_172948.1:n.247C>T (PRSS1)
NR_172949.1:n.247C>T (PRSS1)
NR_172950.1:n.161C>T (PRSS1)
NR_172951.1:n.140-45C>T (PRSS1)
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