Canonical Allele Identifier: CA789593

Gene: PPT1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078640T>C , CM000663.2:g.40078640T>C	GRCh38
NC_000001.10:g.40544312T>C , CM000663.1:g.40544312T>C	GRCh37
NC_000001.9:g.40316899T>C	NCBI36
NG_009192.1:g.23831A>G , LRG_690:g.23831A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.643A>G	ENSP00000394863.4:p.Lys215Glu
ENST00000439754.6:c.646A>G	ENSP00000403207.2:p.Lys216Glu
ENST00000449045.7:c.337A>G	ENSP00000392293.2:p.Lys113Glu
ENST00000527311.7:c.415A>G	ENSP00000436695.3:p.Lys139Glu
ENST00000530076.6:c.-12A>G	ENSP00000434007.1:n.-12A>G
ENST00000530704.6:c.*269A>G	ENSP00000431655.1:n.*269A>G
ENST00000641083.1:c.624A>G
ENST00000641236.1:n.883A>G
ENST00000641319.1:c.646A>G	ENSP00000493128.1:p.Lys216Glu
ENST00000641381.1:c.149-1727A>G
ENST00000641471.1:c.733A>G	ENSP00000493146.1:p.Lys245Glu
ENST00000641691.1:c.*498A>G	ENSP00000492910.1:n.*498A>G
ENST00000641924.1:c.*75A>G	ENSP00000493063.1:n.*75A>G
ENST00000642050.2:c.646A>G MANE Select	ENSP00000493153.1:p.Lys216Glu
ENST00000372775.2:n.43A>G
ENST00000372779.8:c.733A>G	ENSP00000361865.4:p.Lys245Glu
ENST00000433473.7:c.646A>G	ENSP00000394863.3:p.Lys216Glu
ENST00000439754.5:c.331A>G	ENSP00000403207.1:p.Lys111Glu
ENST00000449045.6:c.337A>G	ENSP00000392293.2:p.Lys113Glu
ENST00000527311.6:c.421A>G	ENSP00000436695.2:p.Lys141Glu
ENST00000529905.5:c.646A>G	ENSP00000432053.1:p.Lys216Glu
ENST00000530076.5:c.-12A>G	ENSP00000434007.1:n.-12A>G
ENST00000530704.5:c.*269A>G	ENSP00000431655.1:n.*269A>G
NM_000310.3:c.646A>G , LRG_690t1:c.646A>G	NP_000301.1:p.Lys216Glu
NM_001142604.1:c.337A>G	NP_001136076.1:p.Lys113Glu
XM_005271008.1:c.646A>G	XP_005271065.1:p.Lys216Glu
NM_001363695.1:c.646A>G	NP_001350624.1:p.Lys216Glu
NM_000310.4:c.646A>G MANE Select	NP_000301.1:p.Lys216Glu
NM_001142604.2:c.337A>G	NP_001136076.1:p.Lys113Glu
NM_001363695.2:c.646A>G	NP_001350624.1:p.Lys216Glu