Canonical Allele Identifier: CA1918329274

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70598404C= , CM000672.2:g.70598404C= GRCh38
NC_000010.10:g.72358160C= , CM000672.1:g.72358160C= GRCh37
NC_000010.9:g.72028166C= NCBI36
NG_009615.1:g.9372G= , LRG_94:g.9372G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000697571.1:c.2419-484C= (PALD1) ENSP00000513342.1:n.2419-484C=
ENST00000697572.1:c.2250+33885C= (PALD1) ENSP00000513343.1:n.2250+33885C=
ENST00000697573.1:c.2263-484C= (PALD1) ENSP00000513344.1:n.2263-484C=
ENST00000697577.1:n.2723-484C= (PALD1)
ENST00000697578.1:n.2567-484C= (PALD1)
ENST00000441259.2:c.1317G= (PRF1) MANE Select ENSP00000398568.1:p.Val439=
ENST00000638674.1:c.540-563G= (PRF1) ENSP00000492048.1:n.540-563G=
ENST00000639390.1:n.98-563G= (PRF1)
ENST00000373209.2:c.1317G= (PRF1) ENSP00000362305.1:p.Val439=
ENST00000441259.1:c.1317G= (PRF1) ENSP00000398568.1:p.Val439=
NM_001083116.1:c.1317G= , LRG_94t1:c.1317G= (PRF1) NP_001076585.1:p.Val439=
NM_005041.4:c.1317G= (PRF1) NP_005032.2:p.Val439=
NM_001083116.2:c.1317G= (PRF1) NP_001076585.1:p.Val439=
NM_005041.5:c.1317G= (PRF1) NP_005032.2:p.Val439=
NM_001083116.3:c.1317G= (PRF1) MANE Select NP_001076585.1:p.Val439=
NM_005041.6:c.1317G= (PRF1) NP_005032.2:p.Val439=