Canonical Allele Identifier: CA376958365

Gene: PALD1 PRF1

Linked Data

• dbSNP Id: rs1337432870
• gnomAD v2: 10-72358666-T-A
• gnomAD v4: 10-70598910-T-A
• MyVariant Identifiers: chr10:g.72358666T>A (hg19) ; chr10:g.70598910T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70598910T>A , CM000672.2:g.70598910T>A	GRCh38
NC_000010.10:g.72358666T>A , CM000672.1:g.72358666T>A	GRCh37
NC_000010.9:g.72028672T>A	NCBI36
NG_009615.1:g.8866A>T , LRG_94:g.8866A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.2441T>A (PALD1)	ENSP00000513342.1:p.Leu814Gln
ENST00000697572.1:c.2250+34391T>A (PALD1)	ENSP00000513343.1:n.2250+34391T>A
ENST00000697573.1:c.2285T>A (PALD1)	ENSP00000513344.1:p.Leu762Gln
ENST00000697577.1:n.2745T>A (PALD1)
ENST00000697578.1:n.2589T>A (PALD1)
ENST00000441259.2:c.811A>T (PRF1) MANE Select	ENSP00000398568.1:p.Ser271Cys
ENST00000638674.1:c.540-1069A>T (PRF1)	ENSP00000492048.1:n.540-1069A>T
ENST00000639390.1:n.98-1069A>T (PRF1)
ENST00000373209.2:c.811A>T (PRF1)	ENSP00000362305.1:p.Ser271Cys
ENST00000441259.1:c.811A>T (PRF1)	ENSP00000398568.1:p.Ser271Cys
NM_001083116.1:c.811A>T , LRG_94t1:c.811A>T (PRF1)	NP_001076585.1:p.Ser271Cys
NM_005041.4:c.811A>T (PRF1)	NP_005032.2:p.Ser271Cys
NM_001083116.2:c.811A>T (PRF1)	NP_001076585.1:p.Ser271Cys
NM_005041.5:c.811A>T (PRF1)	NP_005032.2:p.Ser271Cys
NM_001083116.3:c.811A>T (PRF1) MANE Select	NP_001076585.1:p.Ser271Cys
NM_005041.6:c.811A>T (PRF1)	NP_005032.2:p.Ser271Cys