Canonical Allele Identifier: CA5536789

Gene: PPA1

Linked Data

• ClinVar Variation Id: 403335
• ClinVar RCV Id: RCV000454401
• dbSNP Id: rs7077538
• ExAC: 10:71993094 T / G
• gnomAD v2: 10-71993094-T-G
• gnomAD v3: 10-70233338-T-G
• gnomAD v4: 10-70233338-T-G
• MyVariant Identifiers: chr10:g.71993094T>G (hg19) ; chr10:g.70233338T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70233338T>G , CM000672.2:g.70233338T>G	GRCh38
NC_000010.10:g.71993094T>G , CM000672.1:g.71993094T>G	GRCh37
NC_000010.9:g.71663100T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373232.8:c.-11A>C MANE Select	ENSP00000362329.2:n.-11A>C
ENST00000373232.7:c.-11A>C	ENSP00000362329.2:n.-11A>C
ENST00000495346.1:n.184+390A>C
ENST00000625364.1:c.-11A>C	ENSP00000486162.1:n.-11A>C
NM_021129.3:c.-11A>C	NP_066952.1:n.-11A>C
XR_002956985.1:n.90A>C
NM_021129.4:c.-11A>C MANE Select	NP_066952.1:n.-11A>C