Canonical Allele Identifier: CA376955937

Gene: PALD1 PRF1

Linked Data

• dbSNP Id: rs1371735016
• gnomAD v2: 10-72358134-A-T
• gnomAD v4: 10-70598378-A-T
• MyVariant Identifiers: chr10:g.72358134A>T (hg19) ; chr10:g.70598378A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70598378A>T , CM000672.2:g.70598378A>T	GRCh38
NC_000010.10:g.72358134A>T , CM000672.1:g.72358134A>T	GRCh37
NC_000010.9:g.72028140A>T	NCBI36
NG_009615.1:g.9398T>A , LRG_94:g.9398T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697571.1:c.2419-510A>T (PALD1)	ENSP00000513342.1:n.2419-510A>T
ENST00000697572.1:c.2250+33859A>T (PALD1)	ENSP00000513343.1:n.2250+33859A>T
ENST00000697573.1:c.2263-510A>T (PALD1)	ENSP00000513344.1:n.2263-510A>T
ENST00000697577.1:n.2723-510A>T (PALD1)
ENST00000697578.1:n.2567-510A>T (PALD1)
ENST00000441259.2:c.1343T>A (PRF1) MANE Select	ENSP00000398568.1:p.Leu448Gln
ENST00000638674.1:c.540-537T>A (PRF1)	ENSP00000492048.1:n.540-537T>A
ENST00000639390.1:n.98-537T>A (PRF1)
ENST00000373209.2:c.1343T>A (PRF1)	ENSP00000362305.1:p.Leu448Gln
ENST00000441259.1:c.1343T>A (PRF1)	ENSP00000398568.1:p.Leu448Gln
NM_001083116.1:c.1343T>A , LRG_94t1:c.1343T>A (PRF1)	NP_001076585.1:p.Leu448Gln
NM_005041.4:c.1343T>A (PRF1)	NP_005032.2:p.Leu448Gln
NM_001083116.2:c.1343T>A (PRF1)	NP_001076585.1:p.Leu448Gln
NM_005041.5:c.1343T>A (PRF1)	NP_005032.2:p.Leu448Gln
NM_001083116.3:c.1343T>A (PRF1) MANE Select	NP_001076585.1:p.Leu448Gln
NM_005041.6:c.1343T>A (PRF1)	NP_005032.2:p.Leu448Gln