Canonical Allele Identifier: CA1918330357

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70598915T= , CM000672.2:g.70598915T= GRCh38
NC_000010.10:g.72358671T= , CM000672.1:g.72358671T= GRCh37
NC_000010.9:g.72028677T= NCBI36
NG_009615.1:g.8861A= , LRG_94:g.8861A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000697571.1:c.2446T= (PALD1) ENSP00000513342.1:p.Trp816=
ENST00000697572.1:c.2250+34396T= (PALD1) ENSP00000513343.1:n.2250+34396T=
ENST00000697573.1:c.2290T= (PALD1) ENSP00000513344.1:p.Trp764=
ENST00000697577.1:n.2750T= (PALD1)
ENST00000697578.1:n.2594T= (PALD1)
ENST00000441259.2:c.806A= (PRF1) MANE Select ENSP00000398568.1:p.His269=
ENST00000638674.1:c.540-1074A= (PRF1) ENSP00000492048.1:n.540-1074A=
ENST00000639390.1:n.98-1074A= (PRF1)
ENST00000373209.2:c.806A= (PRF1) ENSP00000362305.1:p.His269=
ENST00000441259.1:c.806A= (PRF1) ENSP00000398568.1:p.His269=
NM_001083116.1:c.806A= , LRG_94t1:c.806A= (PRF1) NP_001076585.1:p.His269=
NM_005041.4:c.806A= (PRF1) NP_005032.2:p.His269=
NM_001083116.2:c.806A= (PRF1) NP_001076585.1:p.His269=
NM_005041.5:c.806A= (PRF1) NP_005032.2:p.His269=
NM_001083116.3:c.806A= (PRF1) MANE Select NP_001076585.1:p.His269=
NM_005041.6:c.806A= (PRF1) NP_005032.2:p.His269=