Canonical Allele Identifier: CA470279791

Gene: PALD1 PRF1

Linked Data

• ClinVar Variation Id: 2035157
• ClinVar RCV Id: RCV002877370
• dbSNP Id: rs1238396803
• gnomAD v2: 10-72358730-G-A
• gnomAD v3: 10-70598974-G-A
• gnomAD v4: 10-70598974-G-A
• COSMIC: COSM3440119
• MyVariant Identifiers: chr10:g.72358730G>A (hg19) ; chr10:g.70598974G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70598974G>A , CM000672.2:g.70598974G>A	GRCh38
NC_000010.10:g.72358730G>A , CM000672.1:g.72358730G>A	GRCh37
NC_000010.9:g.72028736G>A	NCBI36
NG_009615.1:g.8802C>T , LRG_94:g.8802C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.2505G>A (PALD1)	ENSP00000513342.1:p.Val835=
ENST00000697572.1:c.2250+34455G>A (PALD1)	ENSP00000513343.1:n.2250+34455G>A
ENST00000697573.1:c.2349G>A (PALD1)	ENSP00000513344.1:p.Val783=
ENST00000697577.1:n.2809G>A (PALD1)
ENST00000697578.1:n.2653G>A (PALD1)
ENST00000441259.2:c.747C>T (PRF1) MANE Select	ENSP00000398568.1:p.Leu249=
ENST00000638674.1:c.540-1133C>T (PRF1)	ENSP00000492048.1:n.540-1133C>T
ENST00000639390.1:n.98-1133C>T (PRF1)
ENST00000373209.2:c.747C>T (PRF1)	ENSP00000362305.1:p.Leu249=
ENST00000441259.1:c.747C>T (PRF1)	ENSP00000398568.1:p.Leu249=
NM_001083116.1:c.747C>T , LRG_94t1:c.747C>T (PRF1)	NP_001076585.1:p.Leu249=
NM_005041.4:c.747C>T (PRF1)	NP_005032.2:p.Leu249=
NM_001083116.2:c.747C>T (PRF1)	NP_001076585.1:p.Leu249=
NM_005041.5:c.747C>T (PRF1)	NP_005032.2:p.Leu249=
NM_001083116.3:c.747C>T (PRF1) MANE Select	NP_001076585.1:p.Leu249=
NM_005041.6:c.747C>T (PRF1)	NP_005032.2:p.Leu249=