Canonical Allele Identifier: CA1918328688

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70598073G= , CM000672.2:g.70598073G= GRCh38
NC_000010.10:g.72357829G= , CM000672.1:g.72357829G= GRCh37
NC_000010.9:g.72027835G= NCBI36
NG_009615.1:g.9703C= , LRG_94:g.9703C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000697571.1:c.2419-815G= (PALD1) ENSP00000513342.1:n.2419-815G=
ENST00000697572.1:c.2250+33554G= (PALD1) ENSP00000513343.1:n.2250+33554G=
ENST00000697573.1:c.2263-815G= (PALD1) ENSP00000513344.1:n.2263-815G=
ENST00000697577.1:n.2723-815G= (PALD1)
ENST00000697578.1:n.2567-815G= (PALD1)
ENST00000441259.2:c.1648C= (PRF1) MANE Select ENSP00000398568.1:p.Arg550=
ENST00000638674.1:c.540-232C= (PRF1) ENSP00000492048.1:n.540-232C=
ENST00000639390.1:n.98-232C= (PRF1)
ENST00000373209.2:c.1648C= (PRF1) ENSP00000362305.1:p.Arg550=
ENST00000441259.1:c.1648C= (PRF1) ENSP00000398568.1:p.Arg550=
NM_001083116.1:c.1648C= , LRG_94t1:c.1648C= (PRF1) NP_001076585.1:p.Arg550=
NM_005041.4:c.1648C= (PRF1) NP_005032.2:p.Arg550=
NM_001083116.2:c.1648C= (PRF1) NP_001076585.1:p.Arg550=
NM_005041.5:c.1648C= (PRF1) NP_005032.2:p.Arg550=
NM_001083116.3:c.1648C= (PRF1) MANE Select NP_001076585.1:p.Arg550=
NM_005041.6:c.1648C= (PRF1) NP_005032.2:p.Arg550=