Canonical Allele Identifier: CA376958693

Gene: PALD1 PRF1

Linked Data

• gnomAD v4: 10-70598936-G-T
• MyVariant Identifiers: chr10:g.72358692G>T (hg19) ; chr10:g.70598936G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70598936G>T , CM000672.2:g.70598936G>T	GRCh38
NC_000010.10:g.72358692G>T , CM000672.1:g.72358692G>T	GRCh37
NC_000010.9:g.72028698G>T	NCBI36
NG_009615.1:g.8840C>A , LRG_94:g.8840C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.2467G>T (PALD1)	ENSP00000513342.1:p.Ala823Ser
ENST00000697572.1:c.2250+34417G>T (PALD1)	ENSP00000513343.1:n.2250+34417G>T
ENST00000697573.1:c.2311G>T (PALD1)	ENSP00000513344.1:p.Ala771Ser
ENST00000697577.1:n.2771G>T (PALD1)
ENST00000697578.1:n.2615G>T (PALD1)
ENST00000441259.2:c.785C>A (PRF1) MANE Select	ENSP00000398568.1:p.Ala262Asp
ENST00000638674.1:c.540-1095C>A (PRF1)	ENSP00000492048.1:n.540-1095C>A
ENST00000639390.1:n.98-1095C>A (PRF1)
ENST00000373209.2:c.785C>A (PRF1)	ENSP00000362305.1:p.Ala262Asp
ENST00000441259.1:c.785C>A (PRF1)	ENSP00000398568.1:p.Ala262Asp
NM_001083116.1:c.785C>A , LRG_94t1:c.785C>A (PRF1)	NP_001076585.1:p.Ala262Asp
NM_005041.4:c.785C>A (PRF1)	NP_005032.2:p.Ala262Asp
NM_001083116.2:c.785C>A (PRF1)	NP_001076585.1:p.Ala262Asp
NM_005041.5:c.785C>A (PRF1)	NP_005032.2:p.Ala262Asp
NM_001083116.3:c.785C>A (PRF1) MANE Select	NP_001076585.1:p.Ala262Asp
NM_005041.6:c.785C>A (PRF1)	NP_005032.2:p.Ala262Asp