Canonical Allele Identifier: CA16609485

Gene: PALD1 PRF1

Linked Data

• ClinVar Variation Id: 397653
• ClinVar RCV Id: RCV000449644
• dbSNP Id: rs1060499556
• MyVariant Identifiers: chr10:g.72358357A>C (hg19) ; chr10:g.70598601A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70598601A>C , CM000672.2:g.70598601A>C	GRCh38
NC_000010.10:g.72358357A>C , CM000672.1:g.72358357A>C	GRCh37
NC_000010.9:g.72028363A>C	NCBI36
NG_009615.1:g.9175T>G , LRG_94:g.9175T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.2419-287A>C (PALD1)	ENSP00000513342.1:n.2419-287A>C
ENST00000697572.1:c.2250+34082A>C (PALD1)	ENSP00000513343.1:n.2250+34082A>C
ENST00000697573.1:c.2263-287A>C (PALD1)	ENSP00000513344.1:n.2263-287A>C
ENST00000697577.1:n.2723-287A>C (PALD1)
ENST00000697578.1:n.2567-287A>C (PALD1)
ENST00000441259.2:c.1120T>G (PRF1) MANE Select	ENSP00000398568.1:p.Trp374Gly
ENST00000638674.1:c.540-760T>G (PRF1)	ENSP00000492048.1:n.540-760T>G
ENST00000639390.1:n.98-760T>G (PRF1)
ENST00000373209.2:c.1120T>G (PRF1)	ENSP00000362305.1:p.Trp374Gly
ENST00000441259.1:c.1120T>G (PRF1)	ENSP00000398568.1:p.Trp374Gly
NM_001083116.1:c.1120T>G , LRG_94t1:c.1120T>G (PRF1)	NP_001076585.1:p.Trp374Gly
NM_005041.4:c.1120T>G (PRF1)	NP_005032.2:p.Trp374Gly
NM_001083116.2:c.1120T>G (PRF1)	NP_001076585.1:p.Trp374Gly
NM_005041.5:c.1120T>G (PRF1)	NP_005032.2:p.Trp374Gly
NM_001083116.3:c.1120T>G (PRF1) MANE Select	NP_001076585.1:p.Trp374Gly
NM_005041.6:c.1120T>G (PRF1)	NP_005032.2:p.Trp374Gly