Canonical Allele Identifier: CA369608750

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142751879G>C , CM000669.2:g.142751879G>C GRCh38
NC_000007.13:g.142459730G>C , CM000669.1:g.142459730G>C GRCh37
NC_000007.12:g.142139304G>C NCBI36
NG_008307.3:g.7396G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311737.12:c.306G>C (PRSS1) MANE Select ENSP00000308720.7:p.Lys102Asn
ENST00000311737.11:c.306G>C (PRSS1) ENSP00000308720.7:p.Lys102Asn
ENST00000463701.1:n.770G>C (PRSS1)
ENST00000485223.1:n.1304G>C (PRSS1)
ENST00000486171.5:c.348G>C (PRSS1) ENSP00000417854.1:p.Lys116Asn
ENST00000492062.1:c.156G>C (PRSS1) ENSP00000419912.1:p.Lys52Asn
ENST00000610416.2:c.370+30693G>C (TRBC1) ENSP00000482915.1:n.370+30693G>C
ENST00000612126.4:c.306G>C (PRSS1) ENSP00000479959.1:p.Lys102Asn
ENST00000619214.4:c.276G>C (PRSS1) ENSP00000481361.1:p.Lys92Asn
ENST00000633114.1:c.306G>C (PRSS2) ENSP00000487822.1:p.Lys102Asn
ENST00000634019.1:c.82+3088G>C (PRSS2) ENSP00000488594.1:n.82+3088G>C
NM_002769.4:c.306G>C (PRSS1) NP_002760.1:p.Lys102Asn
XM_011516411.1:c.981G>C (PRSS1) XP_011514713.1:p.Lys327Asn
NM_002769.5:c.306G>C (PRSS1) MANE Select NP_002760.1:p.Lys102Asn
NR_172947.1:n.248G>C (PRSS1)
NR_172948.1:n.245G>C (PRSS1)
NR_172949.1:n.245G>C (PRSS1)
NR_172950.1:n.159G>C (PRSS1)
NR_172951.1:n.140-47G>C (PRSS1)