Canonical Allele Identifier: CA417322260

Gene: PPT1

Linked Data

• ClinVar Variation Id: 2802618
• ClinVar RCV Id: RCV003620592
• dbSNP Id: rs1473357163
• MyVariant Identifiers: chr1:g.40546092A>G (hg19) ; chr1:g.40080420A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080420A>G , CM000663.2:g.40080420A>G	GRCh38
NC_000001.10:g.40546092A>G , CM000663.1:g.40546092A>G	GRCh37
NC_000001.9:g.40318679A>G	NCBI36
NG_009192.1:g.22051T>C , LRG_690:g.22051T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.601T>C	ENSP00000394863.4:p.Leu201=
ENST00000439754.6:c.604T>C	ENSP00000403207.2:p.Leu202=
ENST00000449045.7:c.295T>C	ENSP00000392293.2:p.Leu99=
ENST00000527311.7:c.373T>C	ENSP00000436695.3:p.Leu125=
ENST00000530076.6:c.-54T>C	ENSP00000434007.1:n.-54T>C
ENST00000530704.6:c.*227T>C	ENSP00000431655.1:n.*227T>C
ENST00000641083.1:c.582T>C
ENST00000641236.1:n.841T>C
ENST00000641319.1:c.604T>C	ENSP00000493128.1:p.Leu202=
ENST00000641381.1:c.149-3507T>C
ENST00000641471.1:c.691T>C	ENSP00000493146.1:p.Leu231=
ENST00000641691.1:c.*456T>C	ENSP00000492910.1:n.*456T>C
ENST00000641924.1:c.*33T>C	ENSP00000493063.1:n.*33T>C
ENST00000642050.2:c.604T>C MANE Select	ENSP00000493153.1:p.Leu202=
ENST00000372779.8:c.691T>C	ENSP00000361865.4:p.Leu231=
ENST00000433473.7:c.604T>C	ENSP00000394863.3:p.Leu202=
ENST00000439754.5:c.289T>C	ENSP00000403207.1:p.Leu97=
ENST00000449045.6:c.295T>C	ENSP00000392293.2:p.Leu99=
ENST00000527311.6:c.379T>C	ENSP00000436695.2:p.Leu127=
ENST00000529905.5:c.604T>C	ENSP00000432053.1:p.Leu202=
ENST00000530076.5:c.-54T>C	ENSP00000434007.1:n.-54T>C
ENST00000530704.5:c.*227T>C	ENSP00000431655.1:n.*227T>C
NM_000310.3:c.604T>C , LRG_690t1:c.604T>C	NP_000301.1:p.Leu202=
NM_001142604.1:c.295T>C	NP_001136076.1:p.Leu99=
XM_005271008.1:c.604T>C	XP_005271065.1:p.Leu202=
NM_001363695.1:c.604T>C	NP_001350624.1:p.Leu202=
NM_000310.4:c.604T>C MANE Select	NP_000301.1:p.Leu202=
NM_001142604.2:c.295T>C	NP_001136076.1:p.Leu99=
NM_001363695.2:c.604T>C	NP_001350624.1:p.Leu202=