Canonical Allele Identifier: CA339845307

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539743A>C (hg19) ; chr1:g.40074071A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074071A>C , CM000663.2:g.40074071A>C	GRCh38
NC_000001.10:g.40539743A>C , CM000663.1:g.40539743A>C	GRCh37
NC_000001.9:g.40312330A>C	NCBI36
NG_009192.1:g.28400T>G , LRG_690:g.28400T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.908T>G	ENSP00000394863.4:p.Phe303Cys
ENST00000439754.6:c.839T>G	ENSP00000403207.2:p.Phe280Cys
ENST00000449045.7:c.602T>G	ENSP00000392293.2:p.Phe201Cys
ENST00000530076.6:c.254T>G	ENSP00000434007.1:p.Phe85Cys
ENST00000530704.6:c.*534T>G	ENSP00000431655.1:n.*534T>G
ENST00000641083.1:c.1001T>G
ENST00000641236.1:n.1148T>G
ENST00000641319.1:c.*121T>G	ENSP00000493128.1:n.*121T>G
ENST00000641381.1:c.333T>G
ENST00000641471.1:c.998T>G	ENSP00000493146.1:p.Phe333Cys
ENST00000641691.1:c.*763T>G	ENSP00000492910.1:n.*763T>G
ENST00000641924.1:c.*340T>G	ENSP00000493063.1:n.*340T>G
ENST00000642050.2:c.911T>G MANE Select	ENSP00000493153.1:p.Phe304Cys
ENST00000372775.2:n.308T>G
ENST00000433473.7:c.911T>G	ENSP00000394863.3:p.Phe304Cys
ENST00000439754.5:c.524T>G	ENSP00000403207.1:p.Phe175Cys
ENST00000449045.6:c.602T>G	ENSP00000392293.2:p.Phe201Cys
ENST00000529905.5:c.911T>G	ENSP00000432053.1:p.Phe304Cys
ENST00000530076.5:c.254T>G	ENSP00000434007.1:p.Phe85Cys
ENST00000530704.5:c.*534T>G	ENSP00000431655.1:n.*534T>G
NM_000310.3:c.911T>G , LRG_690t1:c.911T>G	NP_000301.1:p.Phe304Cys
NM_001142604.1:c.602T>G	NP_001136076.1:p.Phe201Cys
XM_005271008.1:c.839T>G	XP_005271065.1:p.Phe280Cys
NM_001363695.1:c.839T>G	NP_001350624.1:p.Phe280Cys
NM_000310.4:c.911T>G MANE Select	NP_000301.1:p.Phe304Cys
NM_001142604.2:c.602T>G	NP_001136076.1:p.Phe201Cys
NM_001363695.2:c.839T>G	NP_001350624.1:p.Phe280Cys