Canonical Allele Identifier: CA1918330453

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70598971C= , CM000672.2:g.70598971C= GRCh38
NC_000010.10:g.72358727C= , CM000672.1:g.72358727C= GRCh37
NC_000010.9:g.72028733C= NCBI36
NG_009615.1:g.8805G= , LRG_94:g.8805G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000697571.1:c.2502C= (PALD1) ENSP00000513342.1:p.Ser834=
ENST00000697572.1:c.2250+34452C= (PALD1) ENSP00000513343.1:n.2250+34452C=
ENST00000697573.1:c.2346C= (PALD1) ENSP00000513344.1:p.Ser782=
ENST00000697577.1:n.2806C= (PALD1)
ENST00000697578.1:n.2650C= (PALD1)
ENST00000441259.2:c.750G= (PRF1) MANE Select ENSP00000398568.1:p.Thr250=
ENST00000638674.1:c.540-1130G= (PRF1) ENSP00000492048.1:n.540-1130G=
ENST00000639390.1:n.98-1130G= (PRF1)
ENST00000373209.2:c.750G= (PRF1) ENSP00000362305.1:p.Thr250=
ENST00000441259.1:c.750G= (PRF1) ENSP00000398568.1:p.Thr250=
NM_001083116.1:c.750G= , LRG_94t1:c.750G= (PRF1) NP_001076585.1:p.Thr250=
NM_005041.4:c.750G= (PRF1) NP_005032.2:p.Thr250=
NM_001083116.2:c.750G= (PRF1) NP_001076585.1:p.Thr250=
NM_005041.5:c.750G= (PRF1) NP_005032.2:p.Thr250=
NM_001083116.3:c.750G= (PRF1) MANE Select NP_001076585.1:p.Thr250=
NM_005041.6:c.750G= (PRF1) NP_005032.2:p.Thr250=