Canonical Allele Identifier: CA339846925

Gene: PPT1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078645G>C , CM000663.2:g.40078645G>C	GRCh38
NC_000001.10:g.40544317G>C , CM000663.1:g.40544317G>C	GRCh37
NC_000001.9:g.40316904G>C	NCBI36
NG_009192.1:g.23826C>G , LRG_690:g.23826C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.638C>G	ENSP00000394863.4:p.Ser213Cys
ENST00000439754.6:c.641C>G	ENSP00000403207.2:p.Ser214Cys
ENST00000449045.7:c.332C>G	ENSP00000392293.2:p.Ser111Cys
ENST00000527311.7:c.410C>G	ENSP00000436695.3:p.Ser137Cys
ENST00000530076.6:c.-17C>G	ENSP00000434007.1:n.-17C>G
ENST00000530704.6:c.*264C>G	ENSP00000431655.1:n.*264C>G
ENST00000641083.1:c.619C>G
ENST00000641236.1:n.878C>G
ENST00000641319.1:c.641C>G	ENSP00000493128.1:p.Ser214Cys
ENST00000641381.1:c.149-1732C>G
ENST00000641471.1:c.728C>G	ENSP00000493146.1:p.Ser243Cys
ENST00000641691.1:c.*493C>G	ENSP00000492910.1:n.*493C>G
ENST00000641924.1:c.*70C>G	ENSP00000493063.1:n.*70C>G
ENST00000642050.2:c.641C>G MANE Select	ENSP00000493153.1:p.Ser214Cys
ENST00000372775.2:n.38C>G
ENST00000372779.8:c.728C>G	ENSP00000361865.4:p.Ser243Cys
ENST00000433473.7:c.641C>G	ENSP00000394863.3:p.Ser214Cys
ENST00000439754.5:c.326C>G	ENSP00000403207.1:p.Ser109Cys
ENST00000449045.6:c.332C>G	ENSP00000392293.2:p.Ser111Cys
ENST00000527311.6:c.416C>G	ENSP00000436695.2:p.Ser139Cys
ENST00000529905.5:c.641C>G	ENSP00000432053.1:p.Ser214Cys
ENST00000530076.5:c.-17C>G	ENSP00000434007.1:n.-17C>G
ENST00000530704.5:c.*264C>G	ENSP00000431655.1:n.*264C>G
NM_000310.3:c.641C>G , LRG_690t1:c.641C>G	NP_000301.1:p.Ser214Cys
NM_001142604.1:c.332C>G	NP_001136076.1:p.Ser111Cys
XM_005271008.1:c.641C>G	XP_005271065.1:p.Ser214Cys
NM_001363695.1:c.641C>G	NP_001350624.1:p.Ser214Cys
NM_000310.4:c.641C>G MANE Select	NP_000301.1:p.Ser214Cys
NM_001142604.2:c.332C>G	NP_001136076.1:p.Ser111Cys
NM_001363695.2:c.641C>G	NP_001350624.1:p.Ser214Cys