Canonical Allele Identifier: CA339846808

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40544290T>G (hg19) ; chr1:g.40078618T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078618T>G , CM000663.2:g.40078618T>G	GRCh38
NC_000001.10:g.40544290T>G , CM000663.1:g.40544290T>G	GRCh37
NC_000001.9:g.40316877T>G	NCBI36
NG_009192.1:g.23853A>C , LRG_690:g.23853A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.665A>C	ENSP00000394863.4:p.Lys222Thr
ENST00000439754.6:c.668A>C	ENSP00000403207.2:p.Lys223Thr
ENST00000449045.7:c.359A>C	ENSP00000392293.2:p.Lys120Thr
ENST00000527311.7:c.437A>C	ENSP00000436695.3:p.Lys146Thr
ENST00000530076.6:c.11A>C	ENSP00000434007.1:p.Lys4Thr
ENST00000530704.6:c.*291A>C	ENSP00000431655.1:n.*291A>C
ENST00000641083.1:c.646A>C
ENST00000641236.1:n.905A>C
ENST00000641319.1:c.668A>C	ENSP00000493128.1:p.Lys223Thr
ENST00000641381.1:c.149-1705A>C
ENST00000641471.1:c.755A>C	ENSP00000493146.1:p.Lys252Thr
ENST00000641691.1:c.*520A>C	ENSP00000492910.1:n.*520A>C
ENST00000641924.1:c.*97A>C	ENSP00000493063.1:n.*97A>C
ENST00000642050.2:c.668A>C MANE Select	ENSP00000493153.1:p.Lys223Thr
ENST00000372775.2:n.65A>C
ENST00000372779.8:c.755A>C	ENSP00000361865.4:p.Lys252Thr
ENST00000433473.7:c.668A>C	ENSP00000394863.3:p.Lys223Thr
ENST00000439754.5:c.353A>C	ENSP00000403207.1:p.Lys118Thr
ENST00000449045.6:c.359A>C	ENSP00000392293.2:p.Lys120Thr
ENST00000527311.6:c.443A>C	ENSP00000436695.2:p.Lys148Thr
ENST00000529905.5:c.668A>C	ENSP00000432053.1:p.Lys223Thr
ENST00000530076.5:c.11A>C	ENSP00000434007.1:p.Lys4Thr
ENST00000530704.5:c.*291A>C	ENSP00000431655.1:n.*291A>C
NM_000310.3:c.668A>C , LRG_690t1:c.668A>C	NP_000301.1:p.Lys223Thr
NM_001142604.1:c.359A>C	NP_001136076.1:p.Lys120Thr
XM_005271008.1:c.668A>C	XP_005271065.1:p.Lys223Thr
NM_001363695.1:c.668A>C	NP_001350624.1:p.Lys223Thr
NM_000310.4:c.668A>C MANE Select	NP_000301.1:p.Lys223Thr
NM_001142604.2:c.359A>C	NP_001136076.1:p.Lys120Thr
NM_001363695.2:c.668A>C	NP_001350624.1:p.Lys223Thr