Canonical Allele Identifier: CA376955998

Gene: PALD1 PRF1

Linked Data

• ClinVar Variation Id: 1385522
• ClinVar RCV Id: RCV001888861
• dbSNP Id: rs1848159155
• MyVariant Identifiers: chr10:g.72358155A>G (hg19) ; chr10:g.70598399A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70598399A>G , CM000672.2:g.70598399A>G	GRCh38
NC_000010.10:g.72358155A>G , CM000672.1:g.72358155A>G	GRCh37
NC_000010.9:g.72028161A>G	NCBI36
NG_009615.1:g.9377T>C , LRG_94:g.9377T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.2419-489A>G (PALD1)	ENSP00000513342.1:n.2419-489A>G
ENST00000697572.1:c.2250+33880A>G (PALD1)	ENSP00000513343.1:n.2250+33880A>G
ENST00000697573.1:c.2263-489A>G (PALD1)	ENSP00000513344.1:n.2263-489A>G
ENST00000697577.1:n.2723-489A>G (PALD1)
ENST00000697578.1:n.2567-489A>G (PALD1)
ENST00000441259.2:c.1322T>C (PRF1) MANE Select	ENSP00000398568.1:p.Leu441Pro
ENST00000638674.1:c.540-558T>C (PRF1)	ENSP00000492048.1:n.540-558T>C
ENST00000639390.1:n.98-558T>C (PRF1)
ENST00000373209.2:c.1322T>C (PRF1)	ENSP00000362305.1:p.Leu441Pro
ENST00000441259.1:c.1322T>C (PRF1)	ENSP00000398568.1:p.Leu441Pro
NM_001083116.1:c.1322T>C , LRG_94t1:c.1322T>C (PRF1)	NP_001076585.1:p.Leu441Pro
NM_005041.4:c.1322T>C (PRF1)	NP_005032.2:p.Leu441Pro
NM_001083116.2:c.1322T>C (PRF1)	NP_001076585.1:p.Leu441Pro
NM_005041.5:c.1322T>C (PRF1)	NP_005032.2:p.Leu441Pro
NM_001083116.3:c.1322T>C (PRF1) MANE Select	NP_001076585.1:p.Leu441Pro
NM_005041.6:c.1322T>C (PRF1)	NP_005032.2:p.Leu441Pro