Canonical Allele Identifier: CA376958726

Gene: PALD1 PRF1

Linked Data

• dbSNP Id: rs2132476466
• gnomAD v3: 10-70598952-A-G
• gnomAD v4: 10-70598952-A-G
• MyVariant Identifiers: chr10:g.72358708A>G (hg19) ; chr10:g.70598952A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70598952A>G , CM000672.2:g.70598952A>G	GRCh38
NC_000010.10:g.72358708A>G , CM000672.1:g.72358708A>G	GRCh37
NC_000010.9:g.72028714A>G	NCBI36
NG_009615.1:g.8824T>C , LRG_94:g.8824T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.2483A>G (PALD1)	ENSP00000513342.1:p.Gln828Arg
ENST00000697572.1:c.2250+34433A>G (PALD1)	ENSP00000513343.1:n.2250+34433A>G
ENST00000697573.1:c.2327A>G (PALD1)	ENSP00000513344.1:p.Gln776Arg
ENST00000697577.1:n.2787A>G (PALD1)
ENST00000697578.1:n.2631A>G (PALD1)
ENST00000441259.2:c.769T>C (PRF1) MANE Select	ENSP00000398568.1:p.Cys257Arg
ENST00000638674.1:c.540-1111T>C (PRF1)	ENSP00000492048.1:n.540-1111T>C
ENST00000639390.1:n.98-1111T>C (PRF1)
ENST00000373209.2:c.769T>C (PRF1)	ENSP00000362305.1:p.Cys257Arg
ENST00000441259.1:c.769T>C (PRF1)	ENSP00000398568.1:p.Cys257Arg
NM_001083116.1:c.769T>C , LRG_94t1:c.769T>C (PRF1)	NP_001076585.1:p.Cys257Arg
NM_005041.4:c.769T>C (PRF1)	NP_005032.2:p.Cys257Arg
NM_001083116.2:c.769T>C (PRF1)	NP_001076585.1:p.Cys257Arg
NM_005041.5:c.769T>C (PRF1)	NP_005032.2:p.Cys257Arg
NM_001083116.3:c.769T>C (PRF1) MANE Select	NP_001076585.1:p.Cys257Arg
NM_005041.6:c.769T>C (PRF1)	NP_005032.2:p.Cys257Arg