Canonical Allele Identifier: CA339847588

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40546080T>C (hg19) ; chr1:g.40080408T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080408T>C , CM000663.2:g.40080408T>C	GRCh38
NC_000001.10:g.40546080T>C , CM000663.1:g.40546080T>C	GRCh37
NC_000001.9:g.40318667T>C	NCBI36
NG_009192.1:g.22063A>G , LRG_690:g.22063A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.613A>G	ENSP00000394863.4:p.Asn205Asp
ENST00000439754.6:c.616A>G	ENSP00000403207.2:p.Asn206Asp
ENST00000449045.7:c.307A>G	ENSP00000392293.2:p.Asn103Asp
ENST00000527311.7:c.385A>G	ENSP00000436695.3:p.Asn129Asp
ENST00000530076.6:c.-42A>G	ENSP00000434007.1:n.-42A>G
ENST00000530704.6:c.*239A>G	ENSP00000431655.1:n.*239A>G
ENST00000641083.1:c.594A>G
ENST00000641236.1:n.853A>G
ENST00000641319.1:c.616A>G	ENSP00000493128.1:p.Asn206Asp
ENST00000641381.1:c.149-3495A>G
ENST00000641471.1:c.703A>G	ENSP00000493146.1:p.Asn235Asp
ENST00000641691.1:c.*468A>G	ENSP00000492910.1:n.*468A>G
ENST00000641924.1:c.*45A>G	ENSP00000493063.1:n.*45A>G
ENST00000642050.2:c.616A>G MANE Select	ENSP00000493153.1:p.Asn206Asp
ENST00000372779.8:c.703A>G	ENSP00000361865.4:p.Asn235Asp
ENST00000433473.7:c.616A>G	ENSP00000394863.3:p.Asn206Asp
ENST00000439754.5:c.301A>G	ENSP00000403207.1:p.Asn101Asp
ENST00000449045.6:c.307A>G	ENSP00000392293.2:p.Asn103Asp
ENST00000527311.6:c.391A>G	ENSP00000436695.2:p.Asn131Asp
ENST00000529905.5:c.616A>G	ENSP00000432053.1:p.Asn206Asp
ENST00000530076.5:c.-42A>G	ENSP00000434007.1:n.-42A>G
ENST00000530704.5:c.*239A>G	ENSP00000431655.1:n.*239A>G
NM_000310.3:c.616A>G , LRG_690t1:c.616A>G	NP_000301.1:p.Asn206Asp
NM_001142604.1:c.307A>G	NP_001136076.1:p.Asn103Asp
XM_005271008.1:c.616A>G	XP_005271065.1:p.Asn206Asp
NM_001363695.1:c.616A>G	NP_001350624.1:p.Asn206Asp
NM_000310.4:c.616A>G MANE Select	NP_000301.1:p.Asn206Asp
NM_001142604.2:c.307A>G	NP_001136076.1:p.Asn103Asp
NM_001363695.2:c.616A>G	NP_001350624.1:p.Asn206Asp