Canonical Allele Identifier: CA339845845

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539855C>G (hg19) ; chr1:g.40074183C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074183C>G , CM000663.2:g.40074183C>G	GRCh38
NC_000001.10:g.40539855C>G , CM000663.1:g.40539855C>G	GRCh37
NC_000001.9:g.40312442C>G	NCBI36
NG_009192.1:g.28288G>C , LRG_690:g.28288G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.796G>C	ENSP00000394863.4:p.Asp266His
ENST00000439754.6:c.727G>C	ENSP00000403207.2:p.Asp243His
ENST00000449045.7:c.490G>C	ENSP00000392293.2:p.Asp164His
ENST00000527311.7:c.568G>C	ENSP00000436695.3:p.Asp190His
ENST00000530076.6:c.142G>C	ENSP00000434007.1:p.Asp48His
ENST00000530704.6:c.*422G>C	ENSP00000431655.1:n.*422G>C
ENST00000641083.1:c.889G>C
ENST00000641236.1:n.1036G>C
ENST00000641319.1:c.*9G>C	ENSP00000493128.1:n.*9G>C
ENST00000641381.1:c.221G>C
ENST00000641471.1:c.886G>C	ENSP00000493146.1:p.Asp296His
ENST00000641691.1:c.*651G>C	ENSP00000492910.1:n.*651G>C
ENST00000641924.1:c.*228G>C	ENSP00000493063.1:n.*228G>C
ENST00000642050.2:c.799G>C MANE Select	ENSP00000493153.1:p.Asp267His
ENST00000372775.2:n.196G>C
ENST00000433473.7:c.799G>C	ENSP00000394863.3:p.Asp267His
ENST00000439754.5:c.412G>C	ENSP00000403207.1:p.Asp138His
ENST00000449045.6:c.490G>C	ENSP00000392293.2:p.Asp164His
ENST00000527311.6:c.574G>C	ENSP00000436695.2:p.Asp192His
ENST00000529905.5:c.799G>C	ENSP00000432053.1:p.Asp267His
ENST00000530076.5:c.142G>C	ENSP00000434007.1:p.Asp48His
ENST00000530704.5:c.*422G>C	ENSP00000431655.1:n.*422G>C
NM_000310.3:c.799G>C , LRG_690t1:c.799G>C	NP_000301.1:p.Asp267His
NM_001142604.1:c.490G>C	NP_001136076.1:p.Asp164His
XM_005271008.1:c.727G>C	XP_005271065.1:p.Asp243His
NM_001363695.1:c.727G>C	NP_001350624.1:p.Asp243His
NM_000310.4:c.799G>C MANE Select	NP_000301.1:p.Asp267His
NM_001142604.2:c.490G>C	NP_001136076.1:p.Asp164His
NM_001363695.2:c.727G>C	NP_001350624.1:p.Asp243His