Canonical Allele Identifier: CA594288410

Gene: PALD1 PRF1

Linked Data

• dbSNP Id: rs1236488933
• gnomAD v2: 10-72360851-A-G
• gnomAD v3: 10-70601095-A-G
• gnomAD v4: 10-70601095-A-G
• MyVariant Identifiers: chr10:g.72360851A>G (hg19) ; chr10:g.70601095A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70601095A>G , CM000672.2:g.70601095A>G	GRCh38
NC_000010.10:g.72360851A>G , CM000672.1:g.72360851A>G	GRCh37
NC_000010.9:g.72030857A>G	NCBI36
NG_009615.1:g.6681T>C , LRG_94:g.6681T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697571.1:c.*17+2011A>G (PALD1)	ENSP00000513342.1:n.*17+2011A>G
ENST00000697572.1:c.2250+36576A>G (PALD1)	ENSP00000513343.1:n.2250+36576A>G
ENST00000697573.1:c.*17+2011A>G (PALD1)	ENSP00000513344.1:n.*17+2011A>G
ENST00000697577.1:n.2919+2011A>G (PALD1)
ENST00000697578.1:n.2763+2011A>G (PALD1)
ENST00000441259.2:c.-30-163T>C (PRF1) MANE Select	ENSP00000398568.1:n.-30-163T>C
ENST00000638674.1:c.-4-189T>C (PRF1)	ENSP00000492048.1:n.-4-189T>C
ENST00000639390.1:n.97+1550T>C (PRF1)
ENST00000373209.2:c.-4-189T>C (PRF1)	ENSP00000362305.1:n.-4-189T>C
ENST00000441259.1:c.-30-163T>C (PRF1)	ENSP00000398568.1:n.-30-163T>C
NM_001083116.1:c.-30-163T>C , LRG_94t1:c.-30-163T>C (PRF1)	NP_001076585.1:n.-30-163T>C
NM_005041.4:c.-4-189T>C (PRF1)	NP_005032.2:n.-4-189T>C
NM_001083116.2:c.-30-163T>C (PRF1)	NP_001076585.1:n.-30-163T>C
NM_005041.5:c.-4-189T>C (PRF1)	NP_005032.2:n.-4-189T>C
NM_001083116.3:c.-30-163T>C (PRF1) MANE Select	NP_001076585.1:n.-30-163T>C
NM_005041.6:c.-4-189T>C (PRF1)	NP_005032.2:n.-4-189T>C