Canonical Allele Identifier: CA339847646

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40546094A>C (hg19) ; chr1:g.40080422A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080422A>C , CM000663.2:g.40080422A>C	GRCh38
NC_000001.10:g.40546094A>C , CM000663.1:g.40546094A>C	GRCh37
NC_000001.9:g.40318681A>C	NCBI36
NG_009192.1:g.22049T>G , LRG_690:g.22049T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.599T>G	ENSP00000394863.4:p.Phe200Cys
ENST00000439754.6:c.602T>G	ENSP00000403207.2:p.Phe201Cys
ENST00000449045.7:c.293T>G	ENSP00000392293.2:p.Phe98Cys
ENST00000527311.7:c.371T>G	ENSP00000436695.3:p.Phe124Cys
ENST00000530076.6:c.-56T>G	ENSP00000434007.1:n.-56T>G
ENST00000530704.6:c.*225T>G	ENSP00000431655.1:n.*225T>G
ENST00000641083.1:c.580T>G
ENST00000641236.1:n.839T>G
ENST00000641319.1:c.602T>G	ENSP00000493128.1:p.Phe201Cys
ENST00000641381.1:c.149-3509T>G
ENST00000641471.1:c.689T>G	ENSP00000493146.1:p.Phe230Cys
ENST00000641691.1:c.*454T>G	ENSP00000492910.1:n.*454T>G
ENST00000641924.1:c.*31T>G	ENSP00000493063.1:n.*31T>G
ENST00000642050.2:c.602T>G MANE Select	ENSP00000493153.1:p.Phe201Cys
ENST00000372779.8:c.689T>G	ENSP00000361865.4:p.Phe230Cys
ENST00000433473.7:c.602T>G	ENSP00000394863.3:p.Phe201Cys
ENST00000439754.5:c.287T>G	ENSP00000403207.1:p.Phe96Cys
ENST00000449045.6:c.293T>G	ENSP00000392293.2:p.Phe98Cys
ENST00000527311.6:c.377T>G	ENSP00000436695.2:p.Phe126Cys
ENST00000529905.5:c.602T>G	ENSP00000432053.1:p.Phe201Cys
ENST00000530076.5:c.-56T>G	ENSP00000434007.1:n.-56T>G
ENST00000530704.5:c.*225T>G	ENSP00000431655.1:n.*225T>G
NM_000310.3:c.602T>G , LRG_690t1:c.602T>G	NP_000301.1:p.Phe201Cys
NM_001142604.1:c.293T>G	NP_001136076.1:p.Phe98Cys
XM_005271008.1:c.602T>G	XP_005271065.1:p.Phe201Cys
NM_001363695.1:c.602T>G	NP_001350624.1:p.Phe201Cys
NM_000310.4:c.602T>G MANE Select	NP_000301.1:p.Phe201Cys
NM_001142604.2:c.293T>G	NP_001136076.1:p.Phe98Cys
NM_001363695.2:c.602T>G	NP_001350624.1:p.Phe201Cys