Canonical Allele Identifier: CA339845584

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539800G>C (hg19) ; chr1:g.40074128G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074128G>C , CM000663.2:g.40074128G>C	GRCh38
NC_000001.10:g.40539800G>C , CM000663.1:g.40539800G>C	GRCh37
NC_000001.9:g.40312387G>C	NCBI36
NG_009192.1:g.28343C>G , LRG_690:g.28343C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.851C>G	ENSP00000394863.4:p.Thr284Arg
ENST00000439754.6:c.782C>G	ENSP00000403207.2:p.Thr261Arg
ENST00000449045.7:c.545C>G	ENSP00000392293.2:p.Thr182Arg
ENST00000527311.7:c.623C>G	ENSP00000436695.3:p.Thr208Arg
ENST00000530076.6:c.197C>G	ENSP00000434007.1:p.Thr66Arg
ENST00000530704.6:c.*477C>G	ENSP00000431655.1:n.*477C>G
ENST00000641083.1:c.944C>G
ENST00000641236.1:n.1091C>G
ENST00000641319.1:c.*64C>G	ENSP00000493128.1:n.*64C>G
ENST00000641381.1:c.276C>G
ENST00000641471.1:c.941C>G	ENSP00000493146.1:p.Thr314Arg
ENST00000641691.1:c.*706C>G	ENSP00000492910.1:n.*706C>G
ENST00000641924.1:c.*283C>G	ENSP00000493063.1:n.*283C>G
ENST00000642050.2:c.854C>G MANE Select	ENSP00000493153.1:p.Thr285Arg
ENST00000372775.2:n.251C>G
ENST00000433473.7:c.854C>G	ENSP00000394863.3:p.Thr285Arg
ENST00000439754.5:c.467C>G	ENSP00000403207.1:p.Thr156Arg
ENST00000449045.6:c.545C>G	ENSP00000392293.2:p.Thr182Arg
ENST00000529905.5:c.854C>G	ENSP00000432053.1:p.Thr285Arg
ENST00000530076.5:c.197C>G	ENSP00000434007.1:p.Thr66Arg
ENST00000530704.5:c.*477C>G	ENSP00000431655.1:n.*477C>G
NM_000310.3:c.854C>G , LRG_690t1:c.854C>G	NP_000301.1:p.Thr285Arg
NM_001142604.1:c.545C>G	NP_001136076.1:p.Thr182Arg
XM_005271008.1:c.782C>G	XP_005271065.1:p.Thr261Arg
NM_001363695.1:c.782C>G	NP_001350624.1:p.Thr261Arg
NM_000310.4:c.854C>G MANE Select	NP_000301.1:p.Thr285Arg
NM_001142604.2:c.545C>G	NP_001136076.1:p.Thr182Arg
NM_001363695.2:c.782C>G	NP_001350624.1:p.Thr261Arg