Canonical Allele Identifier: CA339845577

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539798C>G (hg19) ; chr1:g.40074126C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074126C>G , CM000663.2:g.40074126C>G	GRCh38
NC_000001.10:g.40539798C>G , CM000663.1:g.40539798C>G	GRCh37
NC_000001.9:g.40312385C>G	NCBI36
NG_009192.1:g.28345G>C , LRG_690:g.28345G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.853G>C	ENSP00000394863.4:p.Glu285Gln
ENST00000439754.6:c.784G>C	ENSP00000403207.2:p.Glu262Gln
ENST00000449045.7:c.547G>C	ENSP00000392293.2:p.Glu183Gln
ENST00000530076.6:c.199G>C	ENSP00000434007.1:p.Glu67Gln
ENST00000530704.6:c.*479G>C	ENSP00000431655.1:n.*479G>C
ENST00000641083.1:c.946G>C
ENST00000641236.1:n.1093G>C
ENST00000641319.1:c.*66G>C	ENSP00000493128.1:n.*66G>C
ENST00000641381.1:c.278G>C
ENST00000641471.1:c.943G>C	ENSP00000493146.1:p.Glu315Gln
ENST00000641691.1:c.*708G>C	ENSP00000492910.1:n.*708G>C
ENST00000641924.1:c.*285G>C	ENSP00000493063.1:n.*285G>C
ENST00000642050.2:c.856G>C MANE Select	ENSP00000493153.1:p.Glu286Gln
ENST00000372775.2:n.253G>C
ENST00000433473.7:c.856G>C	ENSP00000394863.3:p.Glu286Gln
ENST00000439754.5:c.469G>C	ENSP00000403207.1:p.Glu157Gln
ENST00000449045.6:c.547G>C	ENSP00000392293.2:p.Glu183Gln
ENST00000529905.5:c.856G>C	ENSP00000432053.1:p.Glu286Gln
ENST00000530076.5:c.199G>C	ENSP00000434007.1:p.Glu67Gln
ENST00000530704.5:c.*479G>C	ENSP00000431655.1:n.*479G>C
NM_000310.3:c.856G>C , LRG_690t1:c.856G>C	NP_000301.1:p.Glu286Gln
NM_001142604.1:c.547G>C	NP_001136076.1:p.Glu183Gln
XM_005271008.1:c.784G>C	XP_005271065.1:p.Glu262Gln
NM_001363695.1:c.784G>C	NP_001350624.1:p.Glu262Gln
NM_000310.4:c.856G>C MANE Select	NP_000301.1:p.Glu286Gln
NM_001142604.2:c.547G>C	NP_001136076.1:p.Glu183Gln
NM_001363695.2:c.784G>C	NP_001350624.1:p.Glu262Gln