Canonical Allele Identifier: CA1918329395

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70598470C= , CM000672.2:g.70598470C= GRCh38
NC_000010.10:g.72358226C= , CM000672.1:g.72358226C= GRCh37
NC_000010.9:g.72028232C= NCBI36
NG_009615.1:g.9306G= , LRG_94:g.9306G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000697571.1:c.2419-418C= (PALD1) ENSP00000513342.1:n.2419-418C=
ENST00000697572.1:c.2250+33951C= (PALD1) ENSP00000513343.1:n.2250+33951C=
ENST00000697573.1:c.2263-418C= (PALD1) ENSP00000513344.1:n.2263-418C=
ENST00000697577.1:n.2723-418C= (PALD1)
ENST00000697578.1:n.2567-418C= (PALD1)
ENST00000441259.2:c.1251G= (PRF1) MANE Select ENSP00000398568.1:p.Leu417=
ENST00000638674.1:c.540-629G= (PRF1) ENSP00000492048.1:n.540-629G=
ENST00000639390.1:n.98-629G= (PRF1)
ENST00000373209.2:c.1251G= (PRF1) ENSP00000362305.1:p.Leu417=
ENST00000441259.1:c.1251G= (PRF1) ENSP00000398568.1:p.Leu417=
NM_001083116.1:c.1251G= , LRG_94t1:c.1251G= (PRF1) NP_001076585.1:p.Leu417=
NM_005041.4:c.1251G= (PRF1) NP_005032.2:p.Leu417=
NM_001083116.2:c.1251G= (PRF1) NP_001076585.1:p.Leu417=
NM_005041.5:c.1251G= (PRF1) NP_005032.2:p.Leu417=
NM_001083116.3:c.1251G= (PRF1) MANE Select NP_001076585.1:p.Leu417=
NM_005041.6:c.1251G= (PRF1) NP_005032.2:p.Leu417=