Canonical Allele Identifier: CA339845499

Gene: PPT1

Linked Data

• gnomAD v4: 1-40074110-T-C
• MyVariant Identifiers: chr1:g.40539782T>C (hg19) ; chr1:g.40074110T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074110T>C , CM000663.2:g.40074110T>C	GRCh38
NC_000001.10:g.40539782T>C , CM000663.1:g.40539782T>C	GRCh37
NC_000001.9:g.40312369T>C	NCBI36
NG_009192.1:g.28361A>G , LRG_690:g.28361A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.869A>G	ENSP00000394863.4:p.Gln290Arg
ENST00000439754.6:c.800A>G	ENSP00000403207.2:p.Gln267Arg
ENST00000449045.7:c.563A>G	ENSP00000392293.2:p.Gln188Arg
ENST00000530076.6:c.215A>G	ENSP00000434007.1:p.Gln72Arg
ENST00000530704.6:c.*495A>G	ENSP00000431655.1:n.*495A>G
ENST00000641083.1:c.962A>G
ENST00000641236.1:n.1109A>G
ENST00000641319.1:c.*82A>G	ENSP00000493128.1:n.*82A>G
ENST00000641381.1:c.294A>G
ENST00000641471.1:c.959A>G	ENSP00000493146.1:p.Gln320Arg
ENST00000641691.1:c.*724A>G	ENSP00000492910.1:n.*724A>G
ENST00000641924.1:c.*301A>G	ENSP00000493063.1:n.*301A>G
ENST00000642050.2:c.872A>G MANE Select	ENSP00000493153.1:p.Gln291Arg
ENST00000372775.2:n.269A>G
ENST00000433473.7:c.872A>G	ENSP00000394863.3:p.Gln291Arg
ENST00000439754.5:c.485A>G	ENSP00000403207.1:p.Gln162Arg
ENST00000449045.6:c.563A>G	ENSP00000392293.2:p.Gln188Arg
ENST00000529905.5:c.872A>G	ENSP00000432053.1:p.Gln291Arg
ENST00000530076.5:c.215A>G	ENSP00000434007.1:p.Gln72Arg
ENST00000530704.5:c.*495A>G	ENSP00000431655.1:n.*495A>G
NM_000310.3:c.872A>G , LRG_690t1:c.872A>G	NP_000301.1:p.Gln291Arg
NM_001142604.1:c.563A>G	NP_001136076.1:p.Gln188Arg
XM_005271008.1:c.800A>G	XP_005271065.1:p.Gln267Arg
NM_001363695.1:c.800A>G	NP_001350624.1:p.Gln267Arg
NM_000310.4:c.872A>G MANE Select	NP_000301.1:p.Gln291Arg
NM_001142604.2:c.563A>G	NP_001136076.1:p.Gln188Arg
NM_001363695.2:c.800A>G	NP_001350624.1:p.Gln267Arg