Canonical Allele Identifier: CA376960122

Gene: PALD1 PRF1

Linked Data

• COSMIC: COSM4015502
• MyVariant Identifiers: chr10:g.72360571C>G (hg19) ; chr10:g.70600815C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70600815C>G , CM000672.2:g.70600815C>G	GRCh38
NC_000010.10:g.72360571C>G , CM000672.1:g.72360571C>G	GRCh37
NC_000010.9:g.72030577C>G	NCBI36
NG_009615.1:g.6961G>C , LRG_94:g.6961G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.*17+1731C>G (PALD1)	ENSP00000513342.1:n.*17+1731C>G
ENST00000697572.1:c.2250+36296C>G (PALD1)	ENSP00000513343.1:n.2250+36296C>G
ENST00000697573.1:c.*17+1731C>G (PALD1)	ENSP00000513344.1:n.*17+1731C>G
ENST00000697577.1:n.2919+1731C>G (PALD1)
ENST00000697578.1:n.2763+1731C>G (PALD1)
ENST00000441259.2:c.88G>C (PRF1) MANE Select	ENSP00000398568.1:p.Glu30Gln
ENST00000638674.1:c.88G>C (PRF1)	ENSP00000492048.1:p.Glu30Gln
ENST00000639390.1:n.97+1830G>C (PRF1)
ENST00000373209.2:c.88G>C (PRF1)	ENSP00000362305.1:p.Glu30Gln
ENST00000441259.1:c.88G>C (PRF1)	ENSP00000398568.1:p.Glu30Gln
NM_001083116.1:c.88G>C , LRG_94t1:c.88G>C (PRF1)	NP_001076585.1:p.Glu30Gln
NM_005041.4:c.88G>C (PRF1)	NP_005032.2:p.Glu30Gln
NM_001083116.2:c.88G>C (PRF1)	NP_001076585.1:p.Glu30Gln
NM_005041.5:c.88G>C (PRF1)	NP_005032.2:p.Glu30Gln
NM_001083116.3:c.88G>C (PRF1) MANE Select	NP_001076585.1:p.Glu30Gln
NM_005041.6:c.88G>C (PRF1)	NP_005032.2:p.Glu30Gln