Canonical Allele Identifier: CA339847876

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40546144T>G (hg19) ; chr1:g.40080472T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080472T>G , CM000663.2:g.40080472T>G	GRCh38
NC_000001.10:g.40546144T>G , CM000663.1:g.40546144T>G	GRCh37
NC_000001.9:g.40318731T>G	NCBI36
NG_009192.1:g.21999A>C , LRG_690:g.21999A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*388A>C	ENSP00000361865.5:n.*388A>C
ENST00000433473.8:c.549A>C	ENSP00000394863.4:p.Glu183Asp
ENST00000439754.6:c.552A>C	ENSP00000403207.2:p.Glu184Asp
ENST00000449045.7:c.243A>C	ENSP00000392293.2:p.Glu81Asp
ENST00000527311.7:c.321A>C	ENSP00000436695.3:p.Glu107Asp
ENST00000530076.6:c.-106A>C	ENSP00000434007.1:n.-106A>C
ENST00000530704.6:c.*175A>C	ENSP00000431655.1:n.*175A>C
ENST00000641083.1:c.530A>C
ENST00000641236.1:n.789A>C
ENST00000641319.1:c.552A>C	ENSP00000493128.1:p.Glu184Asp
ENST00000641381.1:c.149-3559A>C
ENST00000641471.1:c.639A>C	ENSP00000493146.1:p.Glu213Asp
ENST00000641691.1:c.*404A>C	ENSP00000492910.1:n.*404A>C
ENST00000641924.1:c.140A>C	ENSP00000493063.1:p.Asn47Thr
ENST00000642050.2:c.552A>C MANE Select	ENSP00000493153.1:p.Glu184Asp
ENST00000372779.8:c.639A>C	ENSP00000361865.4:p.Glu213Asp
ENST00000433473.7:c.552A>C	ENSP00000394863.3:p.Glu184Asp
ENST00000439754.5:c.237A>C	ENSP00000403207.1:p.Glu79Asp
ENST00000449045.6:c.243A>C	ENSP00000392293.2:p.Glu81Asp
ENST00000527311.6:c.327A>C	ENSP00000436695.2:p.Glu109Asp
ENST00000529905.5:c.552A>C	ENSP00000432053.1:p.Glu184Asp
ENST00000530076.5:c.-106A>C	ENSP00000434007.1:n.-106A>C
ENST00000530704.5:c.*175A>C	ENSP00000431655.1:n.*175A>C
NM_000310.3:c.552A>C , LRG_690t1:c.552A>C	NP_000301.1:p.Glu184Asp
NM_001142604.1:c.243A>C	NP_001136076.1:p.Glu81Asp
XM_005271008.1:c.552A>C	XP_005271065.1:p.Glu184Asp
NM_001363695.1:c.552A>C	NP_001350624.1:p.Glu184Asp
NM_000310.4:c.552A>C MANE Select	NP_000301.1:p.Glu184Asp
NM_001142604.2:c.243A>C	NP_001136076.1:p.Glu81Asp
NM_001363695.2:c.552A>C	NP_001350624.1:p.Glu184Asp