Canonical Allele Identifier: CA369608841

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142751909G>T , CM000669.2:g.142751909G>T GRCh38
NC_000007.13:g.142459760G>T , CM000669.1:g.142459760G>T GRCh37
NC_000007.12:g.142139334G>T NCBI36
NG_008307.3:g.7426G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311737.12:c.336G>T (PRSS1) MANE Select ENSP00000308720.7:p.Lys112Asn
ENST00000311737.11:c.336G>T (PRSS1) ENSP00000308720.7:p.Lys112Asn
ENST00000463701.1:n.800G>T (PRSS1)
ENST00000485223.1:n.1334G>T (PRSS1)
ENST00000486171.5:c.378G>T (PRSS1) ENSP00000417854.1:p.Lys126Asn
ENST00000492062.1:c.186G>T (PRSS1) ENSP00000419912.1:p.Lys62Asn
ENST00000610416.2:c.370+30723G>T (TRBC1) ENSP00000482915.1:n.370+30723G>T
ENST00000612126.4:c.336G>T (PRSS1) ENSP00000479959.1:p.Lys112Asn
ENST00000619214.4:c.306G>T (PRSS1) ENSP00000481361.1:p.Lys102Asn
ENST00000633114.1:c.321+15G>T (PRSS2) ENSP00000487822.1:n.321+15G>T
ENST00000634019.1:c.82+3118G>T (PRSS2) ENSP00000488594.1:n.82+3118G>T
NM_002769.4:c.336G>T (PRSS1) NP_002760.1:p.Lys112Asn
XM_011516411.1:c.1011G>T (PRSS1) XP_011514713.1:p.Lys337Asn
NM_002769.5:c.336G>T (PRSS1) MANE Select NP_002760.1:p.Lys112Asn
NR_172947.1:n.278G>T (PRSS1)
NR_172948.1:n.275G>T (PRSS1)
NR_172949.1:n.275G>T (PRSS1)
NR_172950.1:n.189G>T (PRSS1)
NR_172951.1:n.140-17G>T (PRSS1)