Canonical Allele Identifier: CA339849226

Gene: PPT1

Linked Data

• ClinVar Variation Id: 1970107
• ClinVar RCV Id: RCV002730372
• gnomAD v4: 1-40092130-T-C
• MyVariant Identifiers: chr1:g.40557802T>C (hg19) ; chr1:g.40092130T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092130T>C , CM000663.2:g.40092130T>C	GRCh38
NC_000001.10:g.40557802T>C , CM000663.1:g.40557802T>C	GRCh37
NC_000001.9:g.40330389T>C	NCBI36
NG_009192.1:g.10341A>G , LRG_690:g.10341A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*113A>G	ENSP00000361865.5:n.*113A>G
ENST00000433473.8:c.274A>G	ENSP00000394863.4:p.Thr92Ala
ENST00000439754.6:c.277A>G	ENSP00000403207.2:p.Thr93Ala
ENST00000449045.7:c.125-2618A>G	ENSP00000392293.2:n.125-2618A>G
ENST00000526547.2:c.557A>G
ENST00000527311.7:c.234+268A>G	ENSP00000436695.3:n.234+268A>G
ENST00000530704.6:c.277A>G	ENSP00000431655.1:p.Thr93Ala
ENST00000641083.1:c.255A>G
ENST00000641236.1:n.514A>G
ENST00000641319.1:c.277A>G	ENSP00000493128.1:p.Thr93Ala
ENST00000641471.1:c.364A>G	ENSP00000493146.1:p.Thr122Ala
ENST00000641548.1:c.*129A>G	ENSP00000492984.1:n.*129A>G
ENST00000641691.1:c.*129A>G	ENSP00000492910.1:n.*129A>G
ENST00000641924.1:c.124+4985A>G	ENSP00000493063.1:n.124+4985A>G
ENST00000642050.2:c.277A>G MANE Select	ENSP00000493153.1:p.Thr93Ala
ENST00000372779.8:c.364A>G	ENSP00000361865.4:p.Thr122Ala
ENST00000433473.7:c.277A>G	ENSP00000394863.3:p.Thr93Ala
ENST00000449045.6:c.125-2618A>G	ENSP00000392293.2:n.125-2618A>G
ENST00000526547.1:c.127A>G	ENSP00000436481.1:p.Thr43Ala
ENST00000527311.6:c.125-73A>G	ENSP00000436695.2:n.125-73A>G
ENST00000529905.5:c.277A>G	ENSP00000432053.1:p.Thr93Ala
ENST00000530704.5:c.277A>G	ENSP00000431655.1:p.Thr93Ala
NM_000310.3:c.277A>G , LRG_690t1:c.277A>G	NP_000301.1:p.Thr93Ala
NM_001142604.1:c.125-2618A>G	NP_001136076.1:n.125-2618A>G
XM_005271008.1:c.277A>G	XP_005271065.1:p.Thr93Ala
NM_001363695.1:c.277A>G	NP_001350624.1:p.Thr93Ala
NM_000310.4:c.277A>G MANE Select	NP_000301.1:p.Thr93Ala
NM_001142604.2:c.125-2618A>G	NP_001136076.1:n.125-2618A>G
NM_001363695.2:c.277A>G	NP_001350624.1:p.Thr93Ala