Canonical Allele Identifier: CA789538

Gene: PPT1

Linked Data

• dbSNP Id: rs755603604
• ExAC: 1:40539725 T / C
• gnomAD v2: 1-40539725-T-C
• gnomAD v3: 1-40074053-T-C
• gnomAD v4: 1-40074053-T-C
• MyVariant Identifiers: chr1:g.40539725T>C (hg19) ; chr1:g.40074053T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074053T>C , CM000663.2:g.40074053T>C	GRCh38
NC_000001.10:g.40539725T>C , CM000663.1:g.40539725T>C	GRCh37
NC_000001.9:g.40312312T>C	NCBI36
NG_009192.1:g.28418A>G , LRG_690:g.28418A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.*8A>G	ENSP00000394863.4:n.*8A>G
ENST00000439754.6:c.*8A>G	ENSP00000403207.2:n.*8A>G
ENST00000449045.7:c.*8A>G	ENSP00000392293.2:n.*8A>G
ENST00000530076.6:c.*8A>G	ENSP00000434007.1:n.*8A>G
ENST00000530704.6:c.*552A>G	ENSP00000431655.1:n.*552A>G
ENST00000641083.1:c.1019A>G
ENST00000641236.1:n.1166A>G
ENST00000641319.1:c.*139A>G	ENSP00000493128.1:n.*139A>G
ENST00000641381.1:c.351A>G
ENST00000641471.1:c.*8A>G	ENSP00000493146.1:n.*8A>G
ENST00000641691.1:c.*781A>G	ENSP00000492910.1:n.*781A>G
ENST00000641924.1:c.*358A>G	ENSP00000493063.1:n.*358A>G
ENST00000642050.2:c.*8A>G MANE Select	ENSP00000493153.1:n.*8A>G
ENST00000372775.2:n.326A>G
ENST00000433473.7:c.*8A>G	ENSP00000394863.3:n.*8A>G
ENST00000439754.5:c.542A>G	ENSP00000403207.1:n.542A>G
ENST00000449045.6:c.*8A>G	ENSP00000392293.2:n.*8A>G
ENST00000529905.5:c.*8A>G	ENSP00000432053.1:n.*8A>G
ENST00000530076.5:c.*8A>G	ENSP00000434007.1:n.*8A>G
ENST00000530704.5:c.*552A>G	ENSP00000431655.1:n.*552A>G
NM_000310.3:c.*8A>G , LRG_690t1:c.*8A>G	NP_000301.1:n.*8A>G
NM_001142604.1:c.*8A>G	NP_001136076.1:n.*8A>G
XM_005271008.1:c.*8A>G	XP_005271065.1:n.*8A>G
NM_001363695.1:c.*8A>G	NP_001350624.1:n.*8A>G
NM_000310.4:c.*8A>G MANE Select	NP_000301.1:n.*8A>G
NM_001142604.2:c.*8A>G	NP_001136076.1:n.*8A>G
NM_001363695.2:c.*8A>G	NP_001350624.1:n.*8A>G