Canonical Allele Identifier: CA339850103

Gene: PPT1

Linked Data

• ClinVar Variation Id: 635061
• ClinVar RCV Id: RCV000785936
• dbSNP Id: rs1557714302
• MyVariant Identifiers: chr1:g.40558158A>C (hg19) ; chr1:g.40092486A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092486A>C , CM000663.2:g.40092486A>C	GRCh38
NC_000001.10:g.40558158A>C , CM000663.1:g.40558158A>C	GRCh37
NC_000001.9:g.40330745A>C	NCBI36
NG_009192.1:g.9985T>G , LRG_690:g.9985T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.150T>G	ENSP00000361865.5:p.Leu50=
ENST00000433473.8:c.143T>G	ENSP00000394863.4:p.Leu48Ter
ENST00000439754.6:c.146T>G	ENSP00000403207.2:p.Leu49Ter
ENST00000449045.7:c.125-2974T>G	ENSP00000392293.2:n.125-2974T>G
ENST00000526547.2:c.426T>G
ENST00000527311.7:c.146T>G	ENSP00000436695.3:p.Leu49Ter
ENST00000530704.6:c.146T>G	ENSP00000431655.1:p.Leu49Ter
ENST00000641083.1:c.124T>G
ENST00000641236.1:n.158T>G
ENST00000641319.1:c.146T>G	ENSP00000493128.1:p.Leu49Ter
ENST00000641471.1:c.233T>G	ENSP00000493146.1:p.Leu78Ter
ENST00000641548.1:c.139T>G	ENSP00000492984.1:p.Ter47Glu
ENST00000641691.1:c.139T>G	ENSP00000492910.1:p.Ter47Glu
ENST00000641924.1:c.124+4629T>G	ENSP00000493063.1:n.124+4629T>G
ENST00000642050.2:c.146T>G MANE Select	ENSP00000493153.1:p.Leu49Ter
ENST00000372779.8:c.233T>G	ENSP00000361865.4:p.Leu78Ter
ENST00000433473.7:c.146T>G	ENSP00000394863.3:p.Leu49Ter
ENST00000449045.6:c.125-2974T>G	ENSP00000392293.2:n.125-2974T>G
ENST00000526547.1:c.-5T>G	ENSP00000436481.1:n.-5T>G
ENST00000527311.6:c.125-429T>G	ENSP00000436695.2:n.125-429T>G
ENST00000529905.5:c.146T>G	ENSP00000432053.1:p.Leu49Ter
ENST00000530704.5:c.146T>G	ENSP00000431655.1:p.Leu49Ter
NM_000310.3:c.146T>G , LRG_690t1:c.146T>G	NP_000301.1:p.Leu49Ter
NM_001142604.1:c.125-2974T>G	NP_001136076.1:n.125-2974T>G
XM_005271008.1:c.146T>G	XP_005271065.1:p.Leu49Ter
NM_001363695.1:c.146T>G	NP_001350624.1:p.Leu49Ter
NM_000310.4:c.146T>G MANE Select	NP_000301.1:p.Leu49Ter
NM_001142604.2:c.125-2974T>G	NP_001136076.1:n.125-2974T>G
NM_001363695.2:c.146T>G	NP_001350624.1:p.Leu49Ter