Canonical Allele Identifier: CA123383

Linked Data

ClinVar Variation Id: 13709
dbSNP Id: rs104894176

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000697571.1:c.2419-289C>T (PALD1) ENSP00000513342.1:n.2419-289C>T
ENST00000697572.1:c.2250+34080C>T (PALD1) ENSP00000513343.1:n.2250+34080C>T
ENST00000697573.1:c.2263-289C>T (PALD1) ENSP00000513344.1:n.2263-289C>T
ENST00000697577.1:n.2723-289C>T (PALD1)
ENST00000697578.1:n.2567-289C>T (PALD1)
ENST00000441259.2:c.1122G>A (PRF1) MANE Select ENSP00000398568.1:p.Trp374Ter
ENST00000638674.1:c.540-758G>A (PRF1) ENSP00000492048.1:n.540-758G>A
ENST00000639390.1:n.98-758G>A (PRF1)
ENST00000373209.2:c.1122G>A (PRF1) ENSP00000362305.1:p.Trp374Ter
ENST00000441259.1:c.1122G>A (PRF1) ENSP00000398568.1:p.Trp374Ter
NM_001083116.1:c.1122G>A , LRG_94t1:c.1122G>A (PRF1) NP_001076585.1:p.Trp374Ter
NM_005041.4:c.1122G>A (PRF1) NP_005032.2:p.Trp374Ter
NM_001083116.2:c.1122G>A (PRF1) NP_001076585.1:p.Trp374Ter
NM_005041.5:c.1122G>A (PRF1) NP_005032.2:p.Trp374Ter
NM_001083116.3:c.1122G>A (PRF1) MANE Select NP_001076585.1:p.Trp374Ter
NM_005041.6:c.1122G>A (PRF1) NP_005032.2:p.Trp374Ter