Canonical Allele Identifier: CA5538920

Gene: PALD1 PRF1

Linked Data

• dbSNP Id: rs777779022
• ExAC: 10:72358710 T / C
• gnomAD v2: 10-72358710-T-C
• MyVariant Identifiers: chr10:g.72358710T>C (hg19) ; chr10:g.70598954T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70598954T>C , CM000672.2:g.70598954T>C	GRCh38
NC_000010.10:g.72358710T>C , CM000672.1:g.72358710T>C	GRCh37
NC_000010.9:g.72028716T>C	NCBI36
NG_009615.1:g.8822A>G , LRG_94:g.8822A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.2485T>C (PALD1)	ENSP00000513342.1:p.Ser829Pro
ENST00000697572.1:c.2250+34435T>C (PALD1)	ENSP00000513343.1:n.2250+34435T>C
ENST00000697573.1:c.2329T>C (PALD1)	ENSP00000513344.1:p.Ser777Pro
ENST00000697577.1:n.2789T>C (PALD1)
ENST00000697578.1:n.2633T>C (PALD1)
ENST00000441259.2:c.767A>G (PRF1) MANE Select	ENSP00000398568.1:p.Asp256Gly
ENST00000638674.1:c.540-1113A>G (PRF1)	ENSP00000492048.1:n.540-1113A>G
ENST00000639390.1:n.98-1113A>G (PRF1)
ENST00000373209.2:c.767A>G (PRF1)	ENSP00000362305.1:p.Asp256Gly
ENST00000441259.1:c.767A>G (PRF1)	ENSP00000398568.1:p.Asp256Gly
NM_001083116.1:c.767A>G , LRG_94t1:c.767A>G (PRF1)	NP_001076585.1:p.Asp256Gly
NM_005041.4:c.767A>G (PRF1)	NP_005032.2:p.Asp256Gly
NM_001083116.2:c.767A>G (PRF1)	NP_001076585.1:p.Asp256Gly
NM_005041.5:c.767A>G (PRF1)	NP_005032.2:p.Asp256Gly
NM_001083116.3:c.767A>G (PRF1) MANE Select	NP_001076585.1:p.Asp256Gly
NM_005041.6:c.767A>G (PRF1)	NP_005032.2:p.Asp256Gly