Canonical Allele Identifier: CA1918328619

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70598023G= , CM000672.2:g.70598023G= GRCh38
NC_000010.10:g.72357779G= , CM000672.1:g.72357779G= GRCh37
NC_000010.9:g.72027785G= NCBI36
NG_009615.1:g.9753C= , LRG_94:g.9753C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000697571.1:c.2419-865G= (PALD1) ENSP00000513342.1:n.2419-865G=
ENST00000697572.1:c.2250+33504G= (PALD1) ENSP00000513343.1:n.2250+33504G=
ENST00000697573.1:c.2263-865G= (PALD1) ENSP00000513344.1:n.2263-865G=
ENST00000697577.1:n.2723-865G= (PALD1)
ENST00000697578.1:n.2567-865G= (PALD1)
ENST00000441259.2:c.*30C= (PRF1) MANE Select ENSP00000398568.1:n.*30C=
ENST00000638674.1:c.540-182C= (PRF1) ENSP00000492048.1:n.540-182C=
ENST00000639390.1:n.98-182C= (PRF1)
ENST00000373209.2:c.*30C= (PRF1) ENSP00000362305.1:n.*30C=
ENST00000441259.1:c.*30C= (PRF1) ENSP00000398568.1:n.*30C=
NM_001083116.1:c.*30C= , LRG_94t1:c.*30C= (PRF1) NP_001076585.1:n.*30C=
NM_005041.4:c.*30C= (PRF1) NP_005032.2:n.*30C=
NM_001083116.2:c.*30C= (PRF1) NP_001076585.1:n.*30C=
NM_005041.5:c.*30C= (PRF1) NP_005032.2:n.*30C=
NM_001083116.3:c.*30C= (PRF1) MANE Select NP_001076585.1:n.*30C=
NM_005041.6:c.*30C= (PRF1) NP_005032.2:n.*30C=