Canonical Allele Identifier: CA376958403

Gene: PALD1 PRF1

Linked Data

• gnomAD v4: 10-70598918-A-T
• MyVariant Identifiers: chr10:g.72358674A>T (hg19) ; chr10:g.70598918A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70598918A>T , CM000672.2:g.70598918A>T	GRCh38
NC_000010.10:g.72358674A>T , CM000672.1:g.72358674A>T	GRCh37
NC_000010.9:g.72028680A>T	NCBI36
NG_009615.1:g.8858T>A , LRG_94:g.8858T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.2449A>T (PALD1)	ENSP00000513342.1:p.Met817Leu
ENST00000697572.1:c.2250+34399A>T (PALD1)	ENSP00000513343.1:n.2250+34399A>T
ENST00000697573.1:c.2293A>T (PALD1)	ENSP00000513344.1:p.Met765Leu
ENST00000697577.1:n.2753A>T (PALD1)
ENST00000697578.1:n.2597A>T (PALD1)
ENST00000441259.2:c.803T>A (PRF1) MANE Select	ENSP00000398568.1:p.Ile268Asn
ENST00000638674.1:c.540-1077T>A (PRF1)	ENSP00000492048.1:n.540-1077T>A
ENST00000639390.1:n.98-1077T>A (PRF1)
ENST00000373209.2:c.803T>A (PRF1)	ENSP00000362305.1:p.Ile268Asn
ENST00000441259.1:c.803T>A (PRF1)	ENSP00000398568.1:p.Ile268Asn
NM_001083116.1:c.803T>A , LRG_94t1:c.803T>A (PRF1)	NP_001076585.1:p.Ile268Asn
NM_005041.4:c.803T>A (PRF1)	NP_005032.2:p.Ile268Asn
NM_001083116.2:c.803T>A (PRF1)	NP_001076585.1:p.Ile268Asn
NM_005041.5:c.803T>A (PRF1)	NP_005032.2:p.Ile268Asn
NM_001083116.3:c.803T>A (PRF1) MANE Select	NP_001076585.1:p.Ile268Asn
NM_005041.6:c.803T>A (PRF1)	NP_005032.2:p.Ile268Asn