Canonical Allele Identifier: CA5538717

Gene: PALD1 PRF1

Linked Data

• ClinVar Variation Id: 1949604
• ClinVar RCV Id: RCV002676342
• dbSNP Id: rs767848717
• ExAC: 10:72357848 C / A
• gnomAD v2: 10-72357848-C-A
• gnomAD v4: 10-70598092-C-A
• MyVariant Identifiers: chr10:g.72357848C>A (hg19) ; chr10:g.70598092C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70598092C>A , CM000672.2:g.70598092C>A	GRCh38
NC_000010.10:g.72357848C>A , CM000672.1:g.72357848C>A	GRCh37
NC_000010.9:g.72027854C>A	NCBI36
NG_009615.1:g.9684G>T , LRG_94:g.9684G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.2419-796C>A (PALD1)	ENSP00000513342.1:n.2419-796C>A
ENST00000697572.1:c.2250+33573C>A (PALD1)	ENSP00000513343.1:n.2250+33573C>A
ENST00000697573.1:c.2263-796C>A (PALD1)	ENSP00000513344.1:n.2263-796C>A
ENST00000697577.1:n.2723-796C>A (PALD1)
ENST00000697578.1:n.2567-796C>A (PALD1)
ENST00000441259.2:c.1629G>T (PRF1) MANE Select	ENSP00000398568.1:p.Leu543=
ENST00000638674.1:c.540-251G>T (PRF1)	ENSP00000492048.1:n.540-251G>T
ENST00000639390.1:n.98-251G>T (PRF1)
ENST00000373209.2:c.1629G>T (PRF1)	ENSP00000362305.1:p.Leu543=
ENST00000441259.1:c.1629G>T (PRF1)	ENSP00000398568.1:p.Leu543=
NM_001083116.1:c.1629G>T , LRG_94t1:c.1629G>T (PRF1)	NP_001076585.1:p.Leu543=
NM_005041.4:c.1629G>T (PRF1)	NP_005032.2:p.Leu543=
NM_001083116.2:c.1629G>T (PRF1)	NP_001076585.1:p.Leu543=
NM_005041.5:c.1629G>T (PRF1)	NP_005032.2:p.Leu543=
NM_001083116.3:c.1629G>T (PRF1) MANE Select	NP_001076585.1:p.Leu543=
NM_005041.6:c.1629G>T (PRF1)	NP_005032.2:p.Leu543=