Canonical Allele Identifier: CA339845576

Gene: PPT1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.853G>T	ENSP00000394863.4:p.Glu285Ter
ENST00000439754.6:c.784G>T	ENSP00000403207.2:p.Glu262Ter
ENST00000449045.7:c.547G>T	ENSP00000392293.2:p.Glu183Ter
ENST00000530076.6:c.199G>T	ENSP00000434007.1:p.Glu67Ter
ENST00000530704.6:c.*479G>T	ENSP00000431655.1:n.*479G>T
ENST00000641083.1:c.946G>T
ENST00000641236.1:n.1093G>T
ENST00000641319.1:c.*66G>T	ENSP00000493128.1:n.*66G>T
ENST00000641381.1:c.278G>T
ENST00000641471.1:c.943G>T	ENSP00000493146.1:p.Glu315Ter
ENST00000641691.1:c.*708G>T	ENSP00000492910.1:n.*708G>T
ENST00000641924.1:c.*285G>T	ENSP00000493063.1:n.*285G>T
ENST00000642050.2:c.856G>T MANE Select	ENSP00000493153.1:p.Glu286Ter
ENST00000372775.2:n.253G>T
ENST00000433473.7:c.856G>T	ENSP00000394863.3:p.Glu286Ter
ENST00000439754.5:c.469G>T	ENSP00000403207.1:p.Glu157Ter
ENST00000449045.6:c.547G>T	ENSP00000392293.2:p.Glu183Ter
ENST00000529905.5:c.856G>T	ENSP00000432053.1:p.Glu286Ter
ENST00000530076.5:c.199G>T	ENSP00000434007.1:p.Glu67Ter
ENST00000530704.5:c.*479G>T	ENSP00000431655.1:n.*479G>T
NM_000310.3:c.856G>T , LRG_690t1:c.856G>T	NP_000301.1:p.Glu286Ter
NM_001142604.1:c.547G>T	NP_001136076.1:p.Glu183Ter
XM_005271008.1:c.784G>T	XP_005271065.1:p.Glu262Ter
NM_001363695.1:c.784G>T	NP_001350624.1:p.Glu262Ter
NM_000310.4:c.856G>T MANE Select	NP_000301.1:p.Glu286Ter
NM_001142604.2:c.547G>T	NP_001136076.1:p.Glu183Ter
NM_001363695.2:c.784G>T	NP_001350624.1:p.Glu262Ter