Canonical Allele Identifier: CA339847555

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40546073T>G (hg19) ; chr1:g.40080401T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080401T>G , CM000663.2:g.40080401T>G	GRCh38
NC_000001.10:g.40546073T>G , CM000663.1:g.40546073T>G	GRCh37
NC_000001.9:g.40318660T>G	NCBI36
NG_009192.1:g.22070A>C , LRG_690:g.22070A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.620A>C	ENSP00000394863.4:p.Glu207Ala
ENST00000439754.6:c.623A>C	ENSP00000403207.2:p.Glu208Ala
ENST00000449045.7:c.314A>C	ENSP00000392293.2:p.Glu105Ala
ENST00000527311.7:c.392A>C	ENSP00000436695.3:p.Glu131Ala
ENST00000530076.6:c.-35A>C	ENSP00000434007.1:n.-35A>C
ENST00000530704.6:c.*246A>C	ENSP00000431655.1:n.*246A>C
ENST00000641083.1:c.601A>C
ENST00000641236.1:n.860A>C
ENST00000641319.1:c.623A>C	ENSP00000493128.1:p.Glu208Ala
ENST00000641381.1:c.149-3488A>C
ENST00000641471.1:c.710A>C	ENSP00000493146.1:p.Glu237Ala
ENST00000641691.1:c.*475A>C	ENSP00000492910.1:n.*475A>C
ENST00000641924.1:c.*52A>C	ENSP00000493063.1:n.*52A>C
ENST00000642050.2:c.623A>C MANE Select	ENSP00000493153.1:p.Glu208Ala
ENST00000372779.8:c.710A>C	ENSP00000361865.4:p.Glu237Ala
ENST00000433473.7:c.623A>C	ENSP00000394863.3:p.Glu208Ala
ENST00000439754.5:c.308A>C	ENSP00000403207.1:p.Glu103Ala
ENST00000449045.6:c.314A>C	ENSP00000392293.2:p.Glu105Ala
ENST00000527311.6:c.398A>C	ENSP00000436695.2:p.Glu133Ala
ENST00000529905.5:c.623A>C	ENSP00000432053.1:p.Glu208Ala
ENST00000530076.5:c.-35A>C	ENSP00000434007.1:n.-35A>C
ENST00000530704.5:c.*246A>C	ENSP00000431655.1:n.*246A>C
NM_000310.3:c.623A>C , LRG_690t1:c.623A>C	NP_000301.1:p.Glu208Ala
NM_001142604.1:c.314A>C	NP_001136076.1:p.Glu105Ala
XM_005271008.1:c.623A>C	XP_005271065.1:p.Glu208Ala
NM_001363695.1:c.623A>C	NP_001350624.1:p.Glu208Ala
NM_000310.4:c.623A>C MANE Select	NP_000301.1:p.Glu208Ala
NM_001142604.2:c.314A>C	NP_001136076.1:p.Glu105Ala
NM_001363695.2:c.623A>C	NP_001350624.1:p.Glu208Ala