Canonical Allele Identifier: CA339847771

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40546121T>C (hg19) ; chr1:g.40080449T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080449T>C , CM000663.2:g.40080449T>C	GRCh38
NC_000001.10:g.40546121T>C , CM000663.1:g.40546121T>C	GRCh37
NC_000001.9:g.40318708T>C	NCBI36
NG_009192.1:g.22022A>G , LRG_690:g.22022A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*411A>G	ENSP00000361865.5:n.*411A>G
ENST00000433473.8:c.572A>G	ENSP00000394863.4:p.Glu191Gly
ENST00000439754.6:c.575A>G	ENSP00000403207.2:p.Glu192Gly
ENST00000449045.7:c.266A>G	ENSP00000392293.2:p.Glu89Gly
ENST00000527311.7:c.344A>G	ENSP00000436695.3:p.Glu115Gly
ENST00000530076.6:c.-83A>G	ENSP00000434007.1:n.-83A>G
ENST00000530704.6:c.*198A>G	ENSP00000431655.1:n.*198A>G
ENST00000641083.1:c.553A>G
ENST00000641236.1:n.812A>G
ENST00000641319.1:c.575A>G	ENSP00000493128.1:p.Glu192Gly
ENST00000641381.1:c.149-3536A>G
ENST00000641471.1:c.662A>G	ENSP00000493146.1:p.Glu221Gly
ENST00000641691.1:c.*427A>G	ENSP00000492910.1:n.*427A>G
ENST00000641924.1:c.*4A>G	ENSP00000493063.1:n.*4A>G
ENST00000642050.2:c.575A>G MANE Select	ENSP00000493153.1:p.Glu192Gly
ENST00000372779.8:c.662A>G	ENSP00000361865.4:p.Glu221Gly
ENST00000433473.7:c.575A>G	ENSP00000394863.3:p.Glu192Gly
ENST00000439754.5:c.260A>G	ENSP00000403207.1:p.Glu87Gly
ENST00000449045.6:c.266A>G	ENSP00000392293.2:p.Glu89Gly
ENST00000527311.6:c.350A>G	ENSP00000436695.2:p.Glu117Gly
ENST00000529905.5:c.575A>G	ENSP00000432053.1:p.Glu192Gly
ENST00000530076.5:c.-83A>G	ENSP00000434007.1:n.-83A>G
ENST00000530704.5:c.*198A>G	ENSP00000431655.1:n.*198A>G
NM_000310.3:c.575A>G , LRG_690t1:c.575A>G	NP_000301.1:p.Glu192Gly
NM_001142604.1:c.266A>G	NP_001136076.1:p.Glu89Gly
XM_005271008.1:c.575A>G	XP_005271065.1:p.Glu192Gly
NM_001363695.1:c.575A>G	NP_001350624.1:p.Glu192Gly
NM_000310.4:c.575A>G MANE Select	NP_000301.1:p.Glu192Gly
NM_001142604.2:c.266A>G	NP_001136076.1:p.Glu89Gly
NM_001363695.2:c.575A>G	NP_001350624.1:p.Glu192Gly