Canonical Allele Identifier: CA376960285

Gene: PALD1 PRF1

Linked Data

• ClinVar Variation Id: 1029054
• ClinVar RCV Id: RCV001330253 ; RCV003230662
• dbSNP Id: rs1848222357
• gnomAD v4: 10-70600902-T-C
• MyVariant Identifiers: chr10:g.72360658T>C (hg19) ; chr10:g.70600902T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70600902T>C , CM000672.2:g.70600902T>C	GRCh38
NC_000010.10:g.72360658T>C , CM000672.1:g.72360658T>C	GRCh37
NC_000010.9:g.72030664T>C	NCBI36
NG_009615.1:g.6874A>G , LRG_94:g.6874A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.*17+1818T>C (PALD1)	ENSP00000513342.1:n.*17+1818T>C
ENST00000697572.1:c.2250+36383T>C (PALD1)	ENSP00000513343.1:n.2250+36383T>C
ENST00000697573.1:c.*17+1818T>C (PALD1)	ENSP00000513344.1:n.*17+1818T>C
ENST00000697577.1:n.2919+1818T>C (PALD1)
ENST00000697578.1:n.2763+1818T>C (PALD1)
ENST00000441259.2:c.1A>G (PRF1) MANE Select	ENSP00000398568.1:p.Met1Val
ENST00000638674.1:c.1A>G (PRF1)	ENSP00000492048.1:p.Met1Val
ENST00000639390.1:n.97+1743A>G (PRF1)
ENST00000373209.2:c.1A>G (PRF1)	ENSP00000362305.1:p.Met1Val
ENST00000441259.1:c.1A>G (PRF1)	ENSP00000398568.1:p.Met1Val
NM_001083116.1:c.1A>G , LRG_94t1:c.1A>G (PRF1)	NP_001076585.1:p.Met1Val
NM_005041.4:c.1A>G (PRF1)	NP_005032.2:p.Met1Val
NM_001083116.2:c.1A>G (PRF1)	NP_001076585.1:p.Met1Val
NM_005041.5:c.1A>G (PRF1)	NP_005032.2:p.Met1Val
NM_001083116.3:c.1A>G (PRF1) MANE Select	NP_001076585.1:p.Met1Val
NM_005041.6:c.1A>G (PRF1)	NP_005032.2:p.Met1Val