Canonical Allele Identifier: CA417322217

Gene: PPT1

Linked Data

• ClinVar Variation Id: 2806767
• ClinVar RCV Id: RCV003620653
• dbSNP Id: rs1481792811
• gnomAD v4: 1-40078608-C-G
• MyVariant Identifiers: chr1:g.40544280C>G (hg19) ; chr1:g.40078608C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078608C>G , CM000663.2:g.40078608C>G	GRCh38
NC_000001.10:g.40544280C>G , CM000663.1:g.40544280C>G	GRCh37
NC_000001.9:g.40316867C>G	NCBI36
NG_009192.1:g.23863G>C , LRG_690:g.23863G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.675G>C	ENSP00000394863.4:p.Val225=
ENST00000439754.6:c.678G>C	ENSP00000403207.2:p.Val226=
ENST00000449045.7:c.369G>C	ENSP00000392293.2:p.Val123=
ENST00000527311.7:c.447G>C	ENSP00000436695.3:p.Val149=
ENST00000530076.6:c.21G>C	ENSP00000434007.1:p.Val7=
ENST00000530704.6:c.*301G>C	ENSP00000431655.1:n.*301G>C
ENST00000641083.1:c.656G>C
ENST00000641236.1:n.915G>C
ENST00000641319.1:c.678G>C	ENSP00000493128.1:p.Val226=
ENST00000641381.1:c.149-1695G>C
ENST00000641471.1:c.765G>C	ENSP00000493146.1:p.Val255=
ENST00000641691.1:c.*530G>C	ENSP00000492910.1:n.*530G>C
ENST00000641924.1:c.*107G>C	ENSP00000493063.1:n.*107G>C
ENST00000642050.2:c.678G>C MANE Select	ENSP00000493153.1:p.Val226=
ENST00000372775.2:n.75G>C
ENST00000372779.8:c.765G>C	ENSP00000361865.4:p.Val255=
ENST00000433473.7:c.678G>C	ENSP00000394863.3:p.Val226=
ENST00000439754.5:c.363G>C	ENSP00000403207.1:p.Val121=
ENST00000449045.6:c.369G>C	ENSP00000392293.2:p.Val123=
ENST00000527311.6:c.453G>C	ENSP00000436695.2:p.Val151=
ENST00000529905.5:c.678G>C	ENSP00000432053.1:p.Val226=
ENST00000530076.5:c.21G>C	ENSP00000434007.1:p.Val7=
ENST00000530704.5:c.*301G>C	ENSP00000431655.1:n.*301G>C
NM_000310.3:c.678G>C , LRG_690t1:c.678G>C	NP_000301.1:p.Val226=
NM_001142604.1:c.369G>C	NP_001136076.1:p.Val123=
XM_005271008.1:c.678G>C	XP_005271065.1:p.Val226=
NM_001363695.1:c.678G>C	NP_001350624.1:p.Val226=
NM_000310.4:c.678G>C MANE Select	NP_000301.1:p.Val226=
NM_001142604.2:c.369G>C	NP_001136076.1:p.Val123=
NM_001363695.2:c.678G>C	NP_001350624.1:p.Val226=