Canonical Allele Identifier: CA5538922

Gene: PALD1 PRF1

Linked Data

• ClinVar Variation Id: 1498158
• ClinVar RCV Id: RCV002019592 ; RCV003464374
• dbSNP Id: rs771076819
• ExAC: 10:72358720 C / T
• gnomAD v2: 10-72358720-C-T
• gnomAD v3: 10-70598964-C-T
• gnomAD v4: 10-70598964-C-T
• MyVariant Identifiers: chr10:g.72358720C>T (hg19) ; chr10:g.70598964C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70598964C>T , CM000672.2:g.70598964C>T	GRCh38
NC_000010.10:g.72358720C>T , CM000672.1:g.72358720C>T	GRCh37
NC_000010.9:g.72028726C>T	NCBI36
NG_009615.1:g.8812G>A , LRG_94:g.8812G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.2495C>T (PALD1)	ENSP00000513342.1:p.Ser832Leu
ENST00000697572.1:c.2250+34445C>T (PALD1)	ENSP00000513343.1:n.2250+34445C>T
ENST00000697573.1:c.2339C>T (PALD1)	ENSP00000513344.1:p.Ser780Leu
ENST00000697577.1:n.2799C>T (PALD1)
ENST00000697578.1:n.2643C>T (PALD1)
ENST00000441259.2:c.757G>A (PRF1) MANE Select	ENSP00000398568.1:p.Glu253Lys
ENST00000638674.1:c.540-1123G>A (PRF1)	ENSP00000492048.1:n.540-1123G>A
ENST00000639390.1:n.98-1123G>A (PRF1)
ENST00000373209.2:c.757G>A (PRF1)	ENSP00000362305.1:p.Glu253Lys
ENST00000441259.1:c.757G>A (PRF1)	ENSP00000398568.1:p.Glu253Lys
NM_001083116.1:c.757G>A , LRG_94t1:c.757G>A (PRF1)	NP_001076585.1:p.Glu253Lys
NM_005041.4:c.757G>A (PRF1)	NP_005032.2:p.Glu253Lys
NM_001083116.2:c.757G>A (PRF1)	NP_001076585.1:p.Glu253Lys
NM_005041.5:c.757G>A (PRF1)	NP_005032.2:p.Glu253Lys
NM_001083116.3:c.757G>A (PRF1) MANE Select	NP_001076585.1:p.Glu253Lys
NM_005041.6:c.757G>A (PRF1)	NP_005032.2:p.Glu253Lys