Canonical Allele Identifier: CA1918329675
Community Standard Title: NM_001083116.3(PRF1):c.1122G= (p.Trp374=)

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70598599C= , CM000672.2:g.70598599C= GRCh38
NC_000010.10:g.72358355C= , CM000672.1:g.72358355C= GRCh37
NC_000010.9:g.72028361C= NCBI36
NG_009615.1:g.9177G= , LRG_94:g.9177G=

Transcript Alleles

HGVS Amino-acid Change
NM_001083116.3:c.1122G= (PRF1) MANE Select NP_001076585.1:p.Trp374=
ENST00000441259.2:c.1122G= (PRF1) MANE Select ENSP00000398568.1:p.Trp374=
NM_001083116.1:c.1122G= , LRG_94t1:c.1122G= (PRF1) NP_001076585.1:p.Trp374=
NM_001083116.2:c.1122G= (PRF1) NP_001076585.1:p.Trp374=
NM_005041.4:c.1122G= (PRF1) NP_005032.2:p.Trp374=
NM_005041.5:c.1122G= (PRF1) NP_005032.2:p.Trp374=
NM_005041.6:c.1122G= (PRF1) NP_005032.2:p.Trp374=
ENST00000373209.2:c.1122G= (PRF1) ENSP00000362305.1:p.Trp374=
ENST00000441259.1:c.1122G= (PRF1) ENSP00000398568.1:p.Trp374=
ENST00000638674.1:c.540-758G= (PRF1) ENSP00000492048.1:n.540-758G=
ENST00000639390.1:n.98-758G= (PRF1)
ENST00000697571.1:c.2419-289C= (PALD1) ENSP00000513342.1:n.2419-289C=
ENST00000697572.1:c.2250+34080C= (PALD1) ENSP00000513343.1:n.2250+34080C=
ENST00000697573.1:c.2263-289C= (PALD1) ENSP00000513344.1:n.2263-289C=
ENST00000697577.1:n.2723-289C= (PALD1)
ENST00000697578.1:n.2567-289C= (PALD1)