Canonical Allele Identifier: CA339845667

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539819G>C (hg19) ; chr1:g.40074147G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074147G>C , CM000663.2:g.40074147G>C	GRCh38
NC_000001.10:g.40539819G>C , CM000663.1:g.40539819G>C	GRCh37
NC_000001.9:g.40312406G>C	NCBI36
NG_009192.1:g.28324C>G , LRG_690:g.28324C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.832C>G	ENSP00000394863.4:p.Gln278Glu
ENST00000439754.6:c.763C>G	ENSP00000403207.2:p.Gln255Glu
ENST00000449045.7:c.526C>G	ENSP00000392293.2:p.Gln176Glu
ENST00000527311.7:c.604C>G	ENSP00000436695.3:p.Gln202Glu
ENST00000530076.6:c.178C>G	ENSP00000434007.1:p.Gln60Glu
ENST00000530704.6:c.*458C>G	ENSP00000431655.1:n.*458C>G
ENST00000641083.1:c.925C>G
ENST00000641236.1:n.1072C>G
ENST00000641319.1:c.*45C>G	ENSP00000493128.1:n.*45C>G
ENST00000641381.1:c.257C>G
ENST00000641471.1:c.922C>G	ENSP00000493146.1:p.Gln308Glu
ENST00000641691.1:c.*687C>G	ENSP00000492910.1:n.*687C>G
ENST00000641924.1:c.*264C>G	ENSP00000493063.1:n.*264C>G
ENST00000642050.2:c.835C>G MANE Select	ENSP00000493153.1:p.Gln279Glu
ENST00000372775.2:n.232C>G
ENST00000433473.7:c.835C>G	ENSP00000394863.3:p.Gln279Glu
ENST00000439754.5:c.448C>G	ENSP00000403207.1:p.Gln150Glu
ENST00000449045.6:c.526C>G	ENSP00000392293.2:p.Gln176Glu
ENST00000527311.6:c.610C>G	ENSP00000436695.2:p.Gln204Glu
ENST00000529905.5:c.835C>G	ENSP00000432053.1:p.Gln279Glu
ENST00000530076.5:c.178C>G	ENSP00000434007.1:p.Gln60Glu
ENST00000530704.5:c.*458C>G	ENSP00000431655.1:n.*458C>G
NM_000310.3:c.835C>G , LRG_690t1:c.835C>G	NP_000301.1:p.Gln279Glu
NM_001142604.1:c.526C>G	NP_001136076.1:p.Gln176Glu
XM_005271008.1:c.763C>G	XP_005271065.1:p.Gln255Glu
NM_001363695.1:c.763C>G	NP_001350624.1:p.Gln255Glu
NM_000310.4:c.835C>G MANE Select	NP_000301.1:p.Gln279Glu
NM_001142604.2:c.526C>G	NP_001136076.1:p.Gln176Glu
NM_001363695.2:c.763C>G	NP_001350624.1:p.Gln255Glu