Canonical Allele Identifier: CA339845289

Gene: PPT1

Linked Data

• ClinVar Variation Id: 2501065
• ClinVar RCV Id: RCV003226662
• MyVariant Identifiers: chr1:g.40539734C>A (hg19) ; chr1:g.40074062C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074062C>A , CM000663.2:g.40074062C>A	GRCh38
NC_000001.10:g.40539734C>A , CM000663.1:g.40539734C>A	GRCh37
NC_000001.9:g.40312321C>A	NCBI36
NG_009192.1:g.28409G>T , LRG_690:g.28409G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.917G>T	ENSP00000394863.4:p.Ter306Leu
ENST00000439754.6:c.848G>T	ENSP00000403207.2:p.Ter283Leu
ENST00000449045.7:c.611G>T	ENSP00000392293.2:p.Ter204Leu
ENST00000530076.6:c.263G>T	ENSP00000434007.1:p.Ter88Leu
ENST00000530704.6:c.*543G>T	ENSP00000431655.1:n.*543G>T
ENST00000641083.1:c.1010G>T
ENST00000641236.1:n.1157G>T
ENST00000641319.1:c.*130G>T	ENSP00000493128.1:n.*130G>T
ENST00000641381.1:c.342G>T
ENST00000641471.1:c.1007G>T	ENSP00000493146.1:p.Ter336Leu
ENST00000641691.1:c.*772G>T	ENSP00000492910.1:n.*772G>T
ENST00000641924.1:c.*349G>T	ENSP00000493063.1:n.*349G>T
ENST00000642050.2:c.920G>T MANE Select	ENSP00000493153.1:p.Ter307Leu
ENST00000372775.2:n.317G>T
ENST00000433473.7:c.920G>T	ENSP00000394863.3:p.Ter307Leu
ENST00000439754.5:c.533G>T	ENSP00000403207.1:p.Ter178Leu
ENST00000449045.6:c.611G>T	ENSP00000392293.2:p.Ter204Leu
ENST00000529905.5:c.920G>T	ENSP00000432053.1:p.Ter307Leu
ENST00000530076.5:c.263G>T	ENSP00000434007.1:p.Ter88Leu
ENST00000530704.5:c.*543G>T	ENSP00000431655.1:n.*543G>T
NM_000310.3:c.920G>T , LRG_690t1:c.920G>T	NP_000301.1:p.Ter307Leu
NM_001142604.1:c.611G>T	NP_001136076.1:p.Ter204Leu
XM_005271008.1:c.848G>T	XP_005271065.1:p.Ter283Leu
NM_001363695.1:c.848G>T	NP_001350624.1:p.Ter283Leu
NM_000310.4:c.920G>T MANE Select	NP_000301.1:p.Ter307Leu
NM_001142604.2:c.611G>T	NP_001136076.1:p.Ter204Leu
NM_001363695.2:c.848G>T	NP_001350624.1:p.Ter283Leu