Canonical Allele Identifier: CA292909

Gene: PPT1

Linked Data

• ClinVar Variation Id: 138800
• ClinVar RCV Id: RCV000127596
• dbSNP Id: rs587781125
• ExAC: 1:40562939 G / C
• gnomAD v2: 1-40562939-G-C
• gnomAD v3: 1-40097267-G-C
• gnomAD v4: 1-40097267-G-C
• MyVariant Identifiers: chr1:g.40562939G>C (hg19) ; chr1:g.40097267G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40097267G>C , CM000663.2:g.40097267G>C	GRCh38
NC_000001.10:g.40562939G>C , CM000663.1:g.40562939G>C	GRCh37
NC_000001.9:g.40335526G>C	NCBI36
NG_009192.1:g.5204C>G , LRG_690:g.5204C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.7:c.-29C>G	ENSP00000394863.3:n.-29C>G
NM_000310.3:c.-29C>G , LRG_690t1:c.-29C>G	NP_000301.1:n.-29C>G
NM_001142604.1:c.-29C>G	NP_001136076.1:n.-29C>G
NM_001363695.1:c.-29C>G	NP_001350624.1:n.-29C>G