Canonical Allele Identifier: CA376960220

Gene: PALD1 PRF1

Linked Data

• gnomAD v4: 10-70600869-G-A
• MyVariant Identifiers: chr10:g.72360625G>A (hg19) ; chr10:g.70600869G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70600869G>A , CM000672.2:g.70600869G>A	GRCh38
NC_000010.10:g.72360625G>A , CM000672.1:g.72360625G>A	GRCh37
NC_000010.9:g.72030631G>A	NCBI36
NG_009615.1:g.6907C>T , LRG_94:g.6907C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.*17+1785G>A (PALD1)	ENSP00000513342.1:n.*17+1785G>A
ENST00000697572.1:c.2250+36350G>A (PALD1)	ENSP00000513343.1:n.2250+36350G>A
ENST00000697573.1:c.*17+1785G>A (PALD1)	ENSP00000513344.1:n.*17+1785G>A
ENST00000697577.1:n.2919+1785G>A (PALD1)
ENST00000697578.1:n.2763+1785G>A (PALD1)
ENST00000441259.2:c.34C>T (PRF1) MANE Select	ENSP00000398568.1:p.Leu12Phe
ENST00000638674.1:c.34C>T (PRF1)	ENSP00000492048.1:p.Leu12Phe
ENST00000639390.1:n.97+1776C>T (PRF1)
ENST00000373209.2:c.34C>T (PRF1)	ENSP00000362305.1:p.Leu12Phe
ENST00000441259.1:c.34C>T (PRF1)	ENSP00000398568.1:p.Leu12Phe
NM_001083116.1:c.34C>T , LRG_94t1:c.34C>T (PRF1)	NP_001076585.1:p.Leu12Phe
NM_005041.4:c.34C>T (PRF1)	NP_005032.2:p.Leu12Phe
NM_001083116.2:c.34C>T (PRF1)	NP_001076585.1:p.Leu12Phe
NM_005041.5:c.34C>T (PRF1)	NP_005032.2:p.Leu12Phe
NM_001083116.3:c.34C>T (PRF1) MANE Select	NP_001076585.1:p.Leu12Phe
NM_005041.6:c.34C>T (PRF1)	NP_005032.2:p.Leu12Phe