Canonical Allele Identifier: CA1918330229

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70598851G= , CM000672.2:g.70598851G= GRCh38
NC_000010.10:g.72358607G= , CM000672.1:g.72358607G= GRCh37
NC_000010.9:g.72028613G= NCBI36
NG_009615.1:g.8925C= , LRG_94:g.8925C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000697571.1:c.2419-37G= (PALD1) ENSP00000513342.1:n.2419-37G=
ENST00000697572.1:c.2250+34332G= (PALD1) ENSP00000513343.1:n.2250+34332G=
ENST00000697573.1:c.2263-37G= (PALD1) ENSP00000513344.1:n.2263-37G=
ENST00000697577.1:n.2723-37G= (PALD1)
ENST00000697578.1:n.2567-37G= (PALD1)
ENST00000441259.2:c.870C= (PRF1) MANE Select ENSP00000398568.1:p.Ala290=
ENST00000638674.1:c.540-1010C= (PRF1) ENSP00000492048.1:n.540-1010C=
ENST00000639390.1:n.98-1010C= (PRF1)
ENST00000373209.2:c.870C= (PRF1) ENSP00000362305.1:p.Ala290=
ENST00000441259.1:c.870C= (PRF1) ENSP00000398568.1:p.Ala290=
NM_001083116.1:c.870C= , LRG_94t1:c.870C= (PRF1) NP_001076585.1:p.Ala290=
NM_005041.4:c.870C= (PRF1) NP_005032.2:p.Ala290=
NM_001083116.2:c.870C= (PRF1) NP_001076585.1:p.Ala290=
NM_005041.5:c.870C= (PRF1) NP_005032.2:p.Ala290=
NM_001083116.3:c.870C= (PRF1) MANE Select NP_001076585.1:p.Ala290=
NM_005041.6:c.870C= (PRF1) NP_005032.2:p.Ala290=