Canonical Allele Identifier: CA339846890

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40544309T>G (hg19) ; chr1:g.40078637T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078637T>G , CM000663.2:g.40078637T>G	GRCh38
NC_000001.10:g.40544309T>G , CM000663.1:g.40544309T>G	GRCh37
NC_000001.9:g.40316896T>G	NCBI36
NG_009192.1:g.23834A>C , LRG_690:g.23834A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.646A>C	ENSP00000394863.4:p.Lys216Gln
ENST00000439754.6:c.649A>C	ENSP00000403207.2:p.Lys217Gln
ENST00000449045.7:c.340A>C	ENSP00000392293.2:p.Lys114Gln
ENST00000527311.7:c.418A>C	ENSP00000436695.3:p.Lys140Gln
ENST00000530076.6:c.-9A>C	ENSP00000434007.1:n.-9A>C
ENST00000530704.6:c.*272A>C	ENSP00000431655.1:n.*272A>C
ENST00000641083.1:c.627A>C
ENST00000641236.1:n.886A>C
ENST00000641319.1:c.649A>C	ENSP00000493128.1:p.Lys217Gln
ENST00000641381.1:c.149-1724A>C
ENST00000641471.1:c.736A>C	ENSP00000493146.1:p.Lys246Gln
ENST00000641691.1:c.*501A>C	ENSP00000492910.1:n.*501A>C
ENST00000641924.1:c.*78A>C	ENSP00000493063.1:n.*78A>C
ENST00000642050.2:c.649A>C MANE Select	ENSP00000493153.1:p.Lys217Gln
ENST00000372775.2:n.46A>C
ENST00000372779.8:c.736A>C	ENSP00000361865.4:p.Lys246Gln
ENST00000433473.7:c.649A>C	ENSP00000394863.3:p.Lys217Gln
ENST00000439754.5:c.334A>C	ENSP00000403207.1:p.Lys112Gln
ENST00000449045.6:c.340A>C	ENSP00000392293.2:p.Lys114Gln
ENST00000527311.6:c.424A>C	ENSP00000436695.2:p.Lys142Gln
ENST00000529905.5:c.649A>C	ENSP00000432053.1:p.Lys217Gln
ENST00000530076.5:c.-9A>C	ENSP00000434007.1:n.-9A>C
ENST00000530704.5:c.*272A>C	ENSP00000431655.1:n.*272A>C
NM_000310.3:c.649A>C , LRG_690t1:c.649A>C	NP_000301.1:p.Lys217Gln
NM_001142604.1:c.340A>C	NP_001136076.1:p.Lys114Gln
XM_005271008.1:c.649A>C	XP_005271065.1:p.Lys217Gln
NM_001363695.1:c.649A>C	NP_001350624.1:p.Lys217Gln
NM_000310.4:c.649A>C MANE Select	NP_000301.1:p.Lys217Gln
NM_001142604.2:c.340A>C	NP_001136076.1:p.Lys114Gln
NM_001363695.2:c.649A>C	NP_001350624.1:p.Lys217Gln