Canonical Allele Identifier: CA376958818

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70598996C>T , CM000672.2:g.70598996C>T GRCh38
NC_000010.10:g.72358752C>T , CM000672.1:g.72358752C>T GRCh37
NC_000010.9:g.72028758C>T NCBI36
NG_009615.1:g.8780G>A , LRG_94:g.8780G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000697571.1:c.2527C>T (PALD1) ENSP00000513342.1:p.Gln843Ter
ENST00000697572.1:c.2250+34477C>T (PALD1) ENSP00000513343.1:n.2250+34477C>T
ENST00000697573.1:c.2371C>T (PALD1) ENSP00000513344.1:p.Gln791Ter
ENST00000697577.1:n.2831C>T (PALD1)
ENST00000697578.1:n.2675C>T (PALD1)
ENST00000441259.2:c.725G>A (PRF1) MANE Select ENSP00000398568.1:p.Cys242Tyr
ENST00000638674.1:c.540-1155G>A (PRF1) ENSP00000492048.1:n.540-1155G>A
ENST00000639390.1:n.98-1155G>A (PRF1)
ENST00000373209.2:c.725G>A (PRF1) ENSP00000362305.1:p.Cys242Tyr
ENST00000441259.1:c.725G>A (PRF1) ENSP00000398568.1:p.Cys242Tyr
NM_001083116.1:c.725G>A , LRG_94t1:c.725G>A (PRF1) NP_001076585.1:p.Cys242Tyr
NM_005041.4:c.725G>A (PRF1) NP_005032.2:p.Cys242Tyr
NM_001083116.2:c.725G>A (PRF1) NP_001076585.1:p.Cys242Tyr
NM_005041.5:c.725G>A (PRF1) NP_005032.2:p.Cys242Tyr
NM_001083116.3:c.725G>A (PRF1) MANE Select NP_001076585.1:p.Cys242Tyr
NM_005041.6:c.725G>A (PRF1) NP_005032.2:p.Cys242Tyr