Canonical Allele Identifier: CA5539153

Gene: PALD1 PRF1

Linked Data

• ClinVar Variation Id: 1301336
• ClinVar RCV Id: RCV001732821 ; RCV001861038
• dbSNP Id: rs758728749
• ExAC: 10:72360656 C / T
• gnomAD v2: 10-72360656-C-T
• gnomAD v3: 10-70600900-C-T
• gnomAD v4: 10-70600900-C-T
• MyVariant Identifiers: chr10:g.72360656C>T (hg19) ; chr10:g.70600900C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70600900C>T , CM000672.2:g.70600900C>T	GRCh38
NC_000010.10:g.72360656C>T , CM000672.1:g.72360656C>T	GRCh37
NC_000010.9:g.72030662C>T	NCBI36
NG_009615.1:g.6876G>A , LRG_94:g.6876G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.*17+1816C>T (PALD1)	ENSP00000513342.1:n.*17+1816C>T
ENST00000697572.1:c.2250+36381C>T (PALD1)	ENSP00000513343.1:n.2250+36381C>T
ENST00000697573.1:c.*17+1816C>T (PALD1)	ENSP00000513344.1:n.*17+1816C>T
ENST00000697577.1:n.2919+1816C>T (PALD1)
ENST00000697578.1:n.2763+1816C>T (PALD1)
ENST00000441259.2:c.3G>A (PRF1) MANE Select	ENSP00000398568.1:p.Met1Ile
ENST00000638674.1:c.3G>A (PRF1)	ENSP00000492048.1:p.Met1Ile
ENST00000639390.1:n.97+1745G>A (PRF1)
ENST00000373209.2:c.3G>A (PRF1)	ENSP00000362305.1:p.Met1Ile
ENST00000441259.1:c.3G>A (PRF1)	ENSP00000398568.1:p.Met1Ile
NM_001083116.1:c.3G>A , LRG_94t1:c.3G>A (PRF1)	NP_001076585.1:p.Met1Ile
NM_005041.4:c.3G>A (PRF1)	NP_005032.2:p.Met1Ile
NM_001083116.2:c.3G>A (PRF1)	NP_001076585.1:p.Met1Ile
NM_005041.5:c.3G>A (PRF1)	NP_005032.2:p.Met1Ile
NM_001083116.3:c.3G>A (PRF1) MANE Select	NP_001076585.1:p.Met1Ile
NM_005041.6:c.3G>A (PRF1)	NP_005032.2:p.Met1Ile