Canonical Allele Identifier: CA376960045

Gene: PALD1 PRF1

Linked Data

• dbSNP Id: rs1848219012
• gnomAD v3: 10-70600779-A-G
• gnomAD v4: 10-70600779-A-G
• MyVariant Identifiers: chr10:g.72360535A>G (hg19) ; chr10:g.70600779A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70600779A>G , CM000672.2:g.70600779A>G	GRCh38
NC_000010.10:g.72360535A>G , CM000672.1:g.72360535A>G	GRCh37
NC_000010.9:g.72030541A>G	NCBI36
NG_009615.1:g.6997T>C , LRG_94:g.6997T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.*17+1695A>G (PALD1)	ENSP00000513342.1:n.*17+1695A>G
ENST00000697572.1:c.2250+36260A>G (PALD1)	ENSP00000513343.1:n.2250+36260A>G
ENST00000697573.1:c.*17+1695A>G (PALD1)	ENSP00000513344.1:n.*17+1695A>G
ENST00000697577.1:n.2919+1695A>G (PALD1)
ENST00000697578.1:n.2763+1695A>G (PALD1)
ENST00000441259.2:c.124T>C (PRF1) MANE Select	ENSP00000398568.1:p.Trp42Arg
ENST00000638674.1:c.124T>C (PRF1)	ENSP00000492048.1:p.Trp42Arg
ENST00000639390.1:n.97+1866T>C (PRF1)
ENST00000373209.2:c.124T>C (PRF1)	ENSP00000362305.1:p.Trp42Arg
ENST00000441259.1:c.124T>C (PRF1)	ENSP00000398568.1:p.Trp42Arg
NM_001083116.1:c.124T>C , LRG_94t1:c.124T>C (PRF1)	NP_001076585.1:p.Trp42Arg
NM_005041.4:c.124T>C (PRF1)	NP_005032.2:p.Trp42Arg
NM_001083116.2:c.124T>C (PRF1)	NP_001076585.1:p.Trp42Arg
NM_005041.5:c.124T>C (PRF1)	NP_005032.2:p.Trp42Arg
NM_001083116.3:c.124T>C (PRF1) MANE Select	NP_001076585.1:p.Trp42Arg
NM_005041.6:c.124T>C (PRF1)	NP_005032.2:p.Trp42Arg