Canonical Allele Identifier: CA339847600

Gene: PPT1

Linked Data

• dbSNP Id: rs1648867615
• gnomAD v3: 1-40080411-T-C
• gnomAD v4: 1-40080411-T-C
• MyVariant Identifiers: chr1:g.40546083T>C (hg19) ; chr1:g.40080411T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080411T>C , CM000663.2:g.40080411T>C	GRCh38
NC_000001.10:g.40546083T>C , CM000663.1:g.40546083T>C	GRCh37
NC_000001.9:g.40318670T>C	NCBI36
NG_009192.1:g.22060A>G , LRG_690:g.22060A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.610A>G	ENSP00000394863.4:p.Ile204Val
ENST00000439754.6:c.613A>G	ENSP00000403207.2:p.Ile205Val
ENST00000449045.7:c.304A>G	ENSP00000392293.2:p.Ile102Val
ENST00000527311.7:c.382A>G	ENSP00000436695.3:p.Ile128Val
ENST00000530076.6:c.-45A>G	ENSP00000434007.1:n.-45A>G
ENST00000530704.6:c.*236A>G	ENSP00000431655.1:n.*236A>G
ENST00000641083.1:c.591A>G
ENST00000641236.1:n.850A>G
ENST00000641319.1:c.613A>G	ENSP00000493128.1:p.Ile205Val
ENST00000641381.1:c.149-3498A>G
ENST00000641471.1:c.700A>G	ENSP00000493146.1:p.Ile234Val
ENST00000641691.1:c.*465A>G	ENSP00000492910.1:n.*465A>G
ENST00000641924.1:c.*42A>G	ENSP00000493063.1:n.*42A>G
ENST00000642050.2:c.613A>G MANE Select	ENSP00000493153.1:p.Ile205Val
ENST00000372779.8:c.700A>G	ENSP00000361865.4:p.Ile234Val
ENST00000433473.7:c.613A>G	ENSP00000394863.3:p.Ile205Val
ENST00000439754.5:c.298A>G	ENSP00000403207.1:p.Ile100Val
ENST00000449045.6:c.304A>G	ENSP00000392293.2:p.Ile102Val
ENST00000527311.6:c.388A>G	ENSP00000436695.2:p.Ile130Val
ENST00000529905.5:c.613A>G	ENSP00000432053.1:p.Ile205Val
ENST00000530076.5:c.-45A>G	ENSP00000434007.1:n.-45A>G
ENST00000530704.5:c.*236A>G	ENSP00000431655.1:n.*236A>G
NM_000310.3:c.613A>G , LRG_690t1:c.613A>G	NP_000301.1:p.Ile205Val
NM_001142604.1:c.304A>G	NP_001136076.1:p.Ile102Val
XM_005271008.1:c.613A>G	XP_005271065.1:p.Ile205Val
NM_001363695.1:c.613A>G	NP_001350624.1:p.Ile205Val
NM_000310.4:c.613A>G MANE Select	NP_000301.1:p.Ile205Val
NM_001142604.2:c.304A>G	NP_001136076.1:p.Ile102Val
NM_001363695.2:c.613A>G	NP_001350624.1:p.Ile205Val