Canonical Allele Identifier: CA417321952

Gene: PPT1

Linked Data

• gnomAD v4: 1-40074064-T-C
• MyVariant Identifiers: chr1:g.40539736T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074064T>C , CM000663.2:g.40074064T>C	GRCh38
NC_000001.10:g.40539736T>C , CM000663.1:g.40539736T>C	GRCh37
NC_000001.9:g.40312323T>C	NCBI36
NG_009192.1:g.28407A>G , LRG_690:g.28407A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.915A>G	ENSP00000394863.4:p.Gly305=
ENST00000439754.6:c.846A>G	ENSP00000403207.2:p.Gly282=
ENST00000449045.7:c.609A>G	ENSP00000392293.2:p.Gly203=
ENST00000530076.6:c.261A>G	ENSP00000434007.1:p.Gly87=
ENST00000530704.6:c.*541A>G	ENSP00000431655.1:n.*541A>G
ENST00000641083.1:c.1008A>G
ENST00000641236.1:n.1155A>G
ENST00000641319.1:c.*128A>G	ENSP00000493128.1:n.*128A>G
ENST00000641381.1:c.340A>G
ENST00000641471.1:c.1005A>G	ENSP00000493146.1:p.Gly335=
ENST00000641691.1:c.*770A>G	ENSP00000492910.1:n.*770A>G
ENST00000641924.1:c.*347A>G	ENSP00000493063.1:n.*347A>G
ENST00000642050.2:c.918A>G MANE Select	ENSP00000493153.1:p.Gly306=
ENST00000372775.2:n.315A>G
ENST00000433473.7:c.918A>G	ENSP00000394863.3:p.Gly306=
ENST00000439754.5:c.531A>G	ENSP00000403207.1:p.Gly177=
ENST00000449045.6:c.609A>G	ENSP00000392293.2:p.Gly203=
ENST00000529905.5:c.918A>G	ENSP00000432053.1:p.Gly306=
ENST00000530076.5:c.261A>G	ENSP00000434007.1:p.Gly87=
ENST00000530704.5:c.*541A>G	ENSP00000431655.1:n.*541A>G
NM_000310.3:c.918A>G , LRG_690t1:c.918A>G	NP_000301.1:p.Gly306=
NM_001142604.1:c.609A>G	NP_001136076.1:p.Gly203=
XM_005271008.1:c.846A>G	XP_005271065.1:p.Gly282=
NM_001363695.1:c.846A>G	NP_001350624.1:p.Gly282=
NM_000310.4:c.918A>G MANE Select	NP_000301.1:p.Gly306=
NM_001142604.2:c.609A>G	NP_001136076.1:p.Gly203=
NM_001363695.2:c.846A>G	NP_001350624.1:p.Gly282=