Canonical Allele Identifier: CA376957084

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70598579C>A , CM000672.2:g.70598579C>A GRCh38
NC_000010.10:g.72358335C>A , CM000672.1:g.72358335C>A GRCh37
NC_000010.9:g.72028341C>A NCBI36
NG_009615.1:g.9197G>T , LRG_94:g.9197G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697571.1:c.2419-309C>A (PALD1) ENSP00000513342.1:n.2419-309C>A
ENST00000697572.1:c.2250+34060C>A (PALD1) ENSP00000513343.1:n.2250+34060C>A
ENST00000697573.1:c.2263-309C>A (PALD1) ENSP00000513344.1:n.2263-309C>A
ENST00000697577.1:n.2723-309C>A (PALD1)
ENST00000697578.1:n.2567-309C>A (PALD1)
ENST00000441259.2:c.1142G>T (PRF1) MANE Select ENSP00000398568.1:p.Cys381Phe
ENST00000638674.1:c.540-738G>T (PRF1) ENSP00000492048.1:n.540-738G>T
ENST00000639390.1:n.98-738G>T (PRF1)
ENST00000373209.2:c.1142G>T (PRF1) ENSP00000362305.1:p.Cys381Phe
ENST00000441259.1:c.1142G>T (PRF1) ENSP00000398568.1:p.Cys381Phe
NM_001083116.1:c.1142G>T , LRG_94t1:c.1142G>T (PRF1) NP_001076585.1:p.Cys381Phe
NM_005041.4:c.1142G>T (PRF1) NP_005032.2:p.Cys381Phe
NM_001083116.2:c.1142G>T (PRF1) NP_001076585.1:p.Cys381Phe
NM_005041.5:c.1142G>T (PRF1) NP_005032.2:p.Cys381Phe
NM_001083116.3:c.1142G>T (PRF1) MANE Select NP_001076585.1:p.Cys381Phe
NM_005041.6:c.1142G>T (PRF1) NP_005032.2:p.Cys381Phe