Canonical Allele Identifier: CA339846935

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40544319C>A (hg19) ; chr1:g.40078647C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078647C>A , CM000663.2:g.40078647C>A	GRCh38
NC_000001.10:g.40544319C>A , CM000663.1:g.40544319C>A	GRCh37
NC_000001.9:g.40316906C>A	NCBI36
NG_009192.1:g.23824G>T , LRG_690:g.23824G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000433473.8:c.636G>T	ENSP00000394863.4:p.Glu212Asp
ENST00000439754.6:c.639G>T	ENSP00000403207.2:p.Glu213Asp
ENST00000449045.7:c.330G>T	ENSP00000392293.2:p.Glu110Asp
ENST00000527311.7:c.408G>T	ENSP00000436695.3:p.Glu136Asp
ENST00000530076.6:c.-19G>T	ENSP00000434007.1:n.-19G>T
ENST00000530704.6:c.*262G>T	ENSP00000431655.1:n.*262G>T
ENST00000641083.1:c.617G>T
ENST00000641236.1:n.876G>T
ENST00000641319.1:c.639G>T	ENSP00000493128.1:p.Glu213Asp
ENST00000641381.1:c.149-1734G>T
ENST00000641471.1:c.726G>T	ENSP00000493146.1:p.Glu242Asp
ENST00000641691.1:c.*491G>T	ENSP00000492910.1:n.*491G>T
ENST00000641924.1:c.*68G>T	ENSP00000493063.1:n.*68G>T
ENST00000642050.2:c.639G>T MANE Select	ENSP00000493153.1:p.Glu213Asp
ENST00000372775.2:n.36G>T
ENST00000372779.8:c.726G>T	ENSP00000361865.4:p.Glu242Asp
ENST00000433473.7:c.639G>T	ENSP00000394863.3:p.Glu213Asp
ENST00000439754.5:c.324G>T	ENSP00000403207.1:p.Glu108Asp
ENST00000449045.6:c.330G>T	ENSP00000392293.2:p.Glu110Asp
ENST00000527311.6:c.414G>T	ENSP00000436695.2:p.Glu138Asp
ENST00000529905.5:c.639G>T	ENSP00000432053.1:p.Glu213Asp
ENST00000530076.5:c.-19G>T	ENSP00000434007.1:n.-19G>T
ENST00000530704.5:c.*262G>T	ENSP00000431655.1:n.*262G>T
NM_000310.3:c.639G>T , LRG_690t1:c.639G>T	NP_000301.1:p.Glu213Asp
NM_001142604.1:c.330G>T	NP_001136076.1:p.Glu110Asp
XM_005271008.1:c.639G>T	XP_005271065.1:p.Glu213Asp
NM_001363695.1:c.639G>T	NP_001350624.1:p.Glu213Asp
NM_000310.4:c.639G>T MANE Select	NP_000301.1:p.Glu213Asp
NM_001142604.2:c.330G>T	NP_001136076.1:p.Glu110Asp
NM_001363695.2:c.639G>T	NP_001350624.1:p.Glu213Asp