Canonical Allele Identifier: CA339845520

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539786G>T (hg19) ; chr1:g.40074114G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074114G>T , CM000663.2:g.40074114G>T	GRCh38
NC_000001.10:g.40539786G>T , CM000663.1:g.40539786G>T	GRCh37
NC_000001.9:g.40312373G>T	NCBI36
NG_009192.1:g.28357C>A , LRG_690:g.28357C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.865C>A	ENSP00000394863.4:p.Leu289Ile
ENST00000439754.6:c.796C>A	ENSP00000403207.2:p.Leu266Ile
ENST00000449045.7:c.559C>A	ENSP00000392293.2:p.Leu187Ile
ENST00000530076.6:c.211C>A	ENSP00000434007.1:p.Leu71Ile
ENST00000530704.6:c.*491C>A	ENSP00000431655.1:n.*491C>A
ENST00000641083.1:c.958C>A
ENST00000641236.1:n.1105C>A
ENST00000641319.1:c.*78C>A	ENSP00000493128.1:n.*78C>A
ENST00000641381.1:c.290C>A
ENST00000641471.1:c.955C>A	ENSP00000493146.1:p.Leu319Ile
ENST00000641691.1:c.*720C>A	ENSP00000492910.1:n.*720C>A
ENST00000641924.1:c.*297C>A	ENSP00000493063.1:n.*297C>A
ENST00000642050.2:c.868C>A MANE Select	ENSP00000493153.1:p.Leu290Ile
ENST00000372775.2:n.265C>A
ENST00000433473.7:c.868C>A	ENSP00000394863.3:p.Leu290Ile
ENST00000439754.5:c.481C>A	ENSP00000403207.1:p.Leu161Ile
ENST00000449045.6:c.559C>A	ENSP00000392293.2:p.Leu187Ile
ENST00000529905.5:c.868C>A	ENSP00000432053.1:p.Leu290Ile
ENST00000530076.5:c.211C>A	ENSP00000434007.1:p.Leu71Ile
ENST00000530704.5:c.*491C>A	ENSP00000431655.1:n.*491C>A
NM_000310.3:c.868C>A , LRG_690t1:c.868C>A	NP_000301.1:p.Leu290Ile
NM_001142604.1:c.559C>A	NP_001136076.1:p.Leu187Ile
XM_005271008.1:c.796C>A	XP_005271065.1:p.Leu266Ile
NM_001363695.1:c.796C>A	NP_001350624.1:p.Leu266Ile
NM_000310.4:c.868C>A MANE Select	NP_000301.1:p.Leu290Ile
NM_001142604.2:c.559C>A	NP_001136076.1:p.Leu187Ile
NM_001363695.2:c.796C>A	NP_001350624.1:p.Leu266Ile