Canonical Allele Identifier: CA339847752

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40546116C>T (hg19) ; chr1:g.40080444C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080444C>T , CM000663.2:g.40080444C>T	GRCh38
NC_000001.10:g.40546116C>T , CM000663.1:g.40546116C>T	GRCh37
NC_000001.9:g.40318703C>T	NCBI36
NG_009192.1:g.22027G>A , LRG_690:g.22027G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.577G>A	ENSP00000394863.4:p.Val193Met
ENST00000439754.6:c.580G>A	ENSP00000403207.2:p.Val194Met
ENST00000449045.7:c.271G>A	ENSP00000392293.2:p.Val91Met
ENST00000527311.7:c.349G>A	ENSP00000436695.3:p.Val117Met
ENST00000530076.6:c.-78G>A	ENSP00000434007.1:n.-78G>A
ENST00000530704.6:c.*203G>A	ENSP00000431655.1:n.*203G>A
ENST00000641083.1:c.558G>A
ENST00000641236.1:n.817G>A
ENST00000641319.1:c.580G>A	ENSP00000493128.1:p.Val194Met
ENST00000641381.1:c.149-3531G>A
ENST00000641471.1:c.667G>A	ENSP00000493146.1:p.Val223Met
ENST00000641691.1:c.*432G>A	ENSP00000492910.1:n.*432G>A
ENST00000641924.1:c.*9G>A	ENSP00000493063.1:n.*9G>A
ENST00000642050.2:c.580G>A MANE Select	ENSP00000493153.1:p.Val194Met
ENST00000372779.8:c.667G>A	ENSP00000361865.4:p.Val223Met
ENST00000433473.7:c.580G>A	ENSP00000394863.3:p.Val194Met
ENST00000439754.5:c.265G>A	ENSP00000403207.1:p.Val89Met
ENST00000449045.6:c.271G>A	ENSP00000392293.2:p.Val91Met
ENST00000527311.6:c.355G>A	ENSP00000436695.2:p.Val119Met
ENST00000529905.5:c.580G>A	ENSP00000432053.1:p.Val194Met
ENST00000530076.5:c.-78G>A	ENSP00000434007.1:n.-78G>A
ENST00000530704.5:c.*203G>A	ENSP00000431655.1:n.*203G>A
NM_000310.3:c.580G>A , LRG_690t1:c.580G>A	NP_000301.1:p.Val194Met
NM_001142604.1:c.271G>A	NP_001136076.1:p.Val91Met
XM_005271008.1:c.580G>A	XP_005271065.1:p.Val194Met
NM_001363695.1:c.580G>A	NP_001350624.1:p.Val194Met
NM_000310.4:c.580G>A MANE Select	NP_000301.1:p.Val194Met
NM_001142604.2:c.271G>A	NP_001136076.1:p.Val91Met
NM_001363695.2:c.580G>A	NP_001350624.1:p.Val194Met