Canonical Allele Identifier: CA339847689

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40546102G>C (hg19) ; chr1:g.40080430G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080430G>C , CM000663.2:g.40080430G>C	GRCh38
NC_000001.10:g.40546102G>C , CM000663.1:g.40546102G>C	GRCh37
NC_000001.9:g.40318689G>C	NCBI36
NG_009192.1:g.22041C>G , LRG_690:g.22041C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.591C>G	ENSP00000394863.4:p.His197Gln
ENST00000439754.6:c.594C>G	ENSP00000403207.2:p.His198Gln
ENST00000449045.7:c.285C>G	ENSP00000392293.2:p.His95Gln
ENST00000527311.7:c.363C>G	ENSP00000436695.3:p.His121Gln
ENST00000530076.6:c.-64C>G	ENSP00000434007.1:n.-64C>G
ENST00000530704.6:c.*217C>G	ENSP00000431655.1:n.*217C>G
ENST00000641083.1:c.572C>G
ENST00000641236.1:n.831C>G
ENST00000641319.1:c.594C>G	ENSP00000493128.1:p.His198Gln
ENST00000641381.1:c.149-3517C>G
ENST00000641471.1:c.681C>G	ENSP00000493146.1:p.His227Gln
ENST00000641691.1:c.*446C>G	ENSP00000492910.1:n.*446C>G
ENST00000641924.1:c.*23C>G	ENSP00000493063.1:n.*23C>G
ENST00000642050.2:c.594C>G MANE Select	ENSP00000493153.1:p.His198Gln
ENST00000372779.8:c.681C>G	ENSP00000361865.4:p.His227Gln
ENST00000433473.7:c.594C>G	ENSP00000394863.3:p.His198Gln
ENST00000439754.5:c.279C>G	ENSP00000403207.1:p.His93Gln
ENST00000449045.6:c.285C>G	ENSP00000392293.2:p.His95Gln
ENST00000527311.6:c.369C>G	ENSP00000436695.2:p.His123Gln
ENST00000529905.5:c.594C>G	ENSP00000432053.1:p.His198Gln
ENST00000530076.5:c.-64C>G	ENSP00000434007.1:n.-64C>G
ENST00000530704.5:c.*217C>G	ENSP00000431655.1:n.*217C>G
NM_000310.3:c.594C>G , LRG_690t1:c.594C>G	NP_000301.1:p.His198Gln
NM_001142604.1:c.285C>G	NP_001136076.1:p.His95Gln
XM_005271008.1:c.594C>G	XP_005271065.1:p.His198Gln
NM_001363695.1:c.594C>G	NP_001350624.1:p.His198Gln
NM_000310.4:c.594C>G MANE Select	NP_000301.1:p.His198Gln
NM_001142604.2:c.285C>G	NP_001136076.1:p.His95Gln
NM_001363695.2:c.594C>G	NP_001350624.1:p.His198Gln