Canonical Allele Identifier: CA13364843

Gene: PALD1 PRF1

Linked Data

• ClinVar Variation Id: 1181354
• ClinVar RCV Id: RCV001538717
• dbSNP Id: rs10999426
• gnomAD v2: 10-72360038-G-A
• gnomAD v3: 10-70600282-G-A
• gnomAD v4: 10-70600282-G-A
• MyVariant Identifiers: chr10:g.72360038G>A (hg19) ; chr10:g.70600282G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70600282G>A , CM000672.2:g.70600282G>A	GRCh38
NC_000010.10:g.72360038G>A , CM000672.1:g.72360038G>A	GRCh37
NC_000010.9:g.72030044G>A	NCBI36
NG_009615.1:g.7494C>T , LRG_94:g.7494C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697571.1:c.*17+1198G>A (PALD1)	ENSP00000513342.1:n.*17+1198G>A
ENST00000697572.1:c.2250+35763G>A (PALD1)	ENSP00000513343.1:n.2250+35763G>A
ENST00000697573.1:c.*17+1198G>A (PALD1)	ENSP00000513344.1:n.*17+1198G>A
ENST00000697577.1:n.2919+1198G>A (PALD1)
ENST00000697578.1:n.2763+1198G>A (PALD1)
ENST00000441259.2:c.539+82C>T (PRF1) MANE Select	ENSP00000398568.1:n.539+82C>T
ENST00000638674.1:c.539+82C>T (PRF1)	ENSP00000492048.1:n.539+82C>T
ENST00000639390.1:n.97+2363C>T (PRF1)
ENST00000373209.2:c.539+82C>T (PRF1)	ENSP00000362305.1:n.539+82C>T
ENST00000441259.1:c.539+82C>T (PRF1)	ENSP00000398568.1:n.539+82C>T
NM_001083116.1:c.539+82C>T , LRG_94t1:c.539+82C>T (PRF1)	NP_001076585.1:n.539+82C>T
NM_005041.4:c.539+82C>T (PRF1)	NP_005032.2:n.539+82C>T
NM_001083116.2:c.539+82C>T (PRF1)	NP_001076585.1:n.539+82C>T
NM_005041.5:c.539+82C>T (PRF1)	NP_005032.2:n.539+82C>T
NM_001083116.3:c.539+82C>T (PRF1) MANE Select	NP_001076585.1:n.539+82C>T
NM_005041.6:c.539+82C>T (PRF1)	NP_005032.2:n.539+82C>T