Canonical Allele Identifier: CA5538901

Gene: PALD1 PRF1

Linked Data

• ClinVar Variation Id: 1430388
• ClinVar RCV Id: RCV001952433
• dbSNP Id: rs753226704
• ExAC: 10:72358624 T / G
• gnomAD v2: 10-72358624-T-G
• gnomAD v3: 10-70598868-T-G
• gnomAD v4: 10-70598868-T-G
• MyVariant Identifiers: chr10:g.72358624T>G (hg19) ; chr10:g.70598868T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70598868T>G , CM000672.2:g.70598868T>G	GRCh38
NC_000010.10:g.72358624T>G , CM000672.1:g.72358624T>G	GRCh37
NC_000010.9:g.72028630T>G	NCBI36
NG_009615.1:g.8908A>C , LRG_94:g.8908A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.2419-20T>G (PALD1)	ENSP00000513342.1:n.2419-20T>G
ENST00000697572.1:c.2250+34349T>G (PALD1)	ENSP00000513343.1:n.2250+34349T>G
ENST00000697573.1:c.2263-20T>G (PALD1)	ENSP00000513344.1:n.2263-20T>G
ENST00000697577.1:n.2723-20T>G (PALD1)
ENST00000697578.1:n.2567-20T>G (PALD1)
ENST00000441259.2:c.853A>C (PRF1) MANE Select	ENSP00000398568.1:p.Lys285Gln
ENST00000638674.1:c.540-1027A>C (PRF1)	ENSP00000492048.1:n.540-1027A>C
ENST00000639390.1:n.98-1027A>C (PRF1)
ENST00000373209.2:c.853A>C (PRF1)	ENSP00000362305.1:p.Lys285Gln
ENST00000441259.1:c.853A>C (PRF1)	ENSP00000398568.1:p.Lys285Gln
NM_001083116.1:c.853A>C , LRG_94t1:c.853A>C (PRF1)	NP_001076585.1:p.Lys285Gln
NM_005041.4:c.853A>C (PRF1)	NP_005032.2:p.Lys285Gln
NM_001083116.2:c.853A>C (PRF1)	NP_001076585.1:p.Lys285Gln
NM_005041.5:c.853A>C (PRF1)	NP_005032.2:p.Lys285Gln
NM_001083116.3:c.853A>C (PRF1) MANE Select	NP_001076585.1:p.Lys285Gln
NM_005041.6:c.853A>C (PRF1)	NP_005032.2:p.Lys285Gln