Canonical Allele Identifier: CA470279769

Gene: PALD1 PRF1

Linked Data

• ClinVar Variation Id: 1090266
• ClinVar RCV Id: RCV001409339
• dbSNP Id: rs2132476492
• gnomAD v4: 10-70598959-C-T
• MyVariant Identifiers: chr10:g.72358715C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70598959C>T , CM000672.2:g.70598959C>T	GRCh38
NC_000010.10:g.72358715C>T , CM000672.1:g.72358715C>T	GRCh37
NC_000010.9:g.72028721C>T	NCBI36
NG_009615.1:g.8817G>A , LRG_94:g.8817G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.2490C>T (PALD1)	ENSP00000513342.1:p.Ser830=
ENST00000697572.1:c.2250+34440C>T (PALD1)	ENSP00000513343.1:n.2250+34440C>T
ENST00000697573.1:c.2334C>T (PALD1)	ENSP00000513344.1:p.Ser778=
ENST00000697577.1:n.2794C>T (PALD1)
ENST00000697578.1:n.2638C>T (PALD1)
ENST00000441259.2:c.762G>A (PRF1) MANE Select	ENSP00000398568.1:p.Val254=
ENST00000638674.1:c.540-1118G>A (PRF1)	ENSP00000492048.1:n.540-1118G>A
ENST00000639390.1:n.98-1118G>A (PRF1)
ENST00000373209.2:c.762G>A (PRF1)	ENSP00000362305.1:p.Val254=
ENST00000441259.1:c.762G>A (PRF1)	ENSP00000398568.1:p.Val254=
NM_001083116.1:c.762G>A , LRG_94t1:c.762G>A (PRF1)	NP_001076585.1:p.Val254=
NM_005041.4:c.762G>A (PRF1)	NP_005032.2:p.Val254=
NM_001083116.2:c.762G>A (PRF1)	NP_001076585.1:p.Val254=
NM_005041.5:c.762G>A (PRF1)	NP_005032.2:p.Val254=
NM_001083116.3:c.762G>A (PRF1) MANE Select	NP_001076585.1:p.Val254=
NM_005041.6:c.762G>A (PRF1)	NP_005032.2:p.Val254=