Canonical Allele Identifier: CA1918330405

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70598943C= , CM000672.2:g.70598943C= GRCh38
NC_000010.10:g.72358699C= , CM000672.1:g.72358699C= GRCh37
NC_000010.9:g.72028705C= NCBI36
NG_009615.1:g.8833G= , LRG_94:g.8833G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000697571.1:c.2474C= (PALD1) ENSP00000513342.1:p.Thr825=
ENST00000697572.1:c.2250+34424C= (PALD1) ENSP00000513343.1:n.2250+34424C=
ENST00000697573.1:c.2318C= (PALD1) ENSP00000513344.1:p.Thr773=
ENST00000697577.1:n.2778C= (PALD1)
ENST00000697578.1:n.2622C= (PALD1)
ENST00000441259.2:c.778G= (PRF1) MANE Select ENSP00000398568.1:p.Val260=
ENST00000638674.1:c.540-1102G= (PRF1) ENSP00000492048.1:n.540-1102G=
ENST00000639390.1:n.98-1102G= (PRF1)
ENST00000373209.2:c.778G= (PRF1) ENSP00000362305.1:p.Val260=
ENST00000441259.1:c.778G= (PRF1) ENSP00000398568.1:p.Val260=
NM_001083116.1:c.778G= , LRG_94t1:c.778G= (PRF1) NP_001076585.1:p.Val260=
NM_005041.4:c.778G= (PRF1) NP_005032.2:p.Val260=
NM_001083116.2:c.778G= (PRF1) NP_001076585.1:p.Val260=
NM_005041.5:c.778G= (PRF1) NP_005032.2:p.Val260=
NM_001083116.3:c.778G= (PRF1) MANE Select NP_001076585.1:p.Val260=
NM_005041.6:c.778G= (PRF1) NP_005032.2:p.Val260=