Canonical Allele Identifier: CA417322249

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40546071G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080399G>T , CM000663.2:g.40080399G>T	GRCh38
NC_000001.10:g.40546071G>T , CM000663.1:g.40546071G>T	GRCh37
NC_000001.9:g.40318658G>T	NCBI36
NG_009192.1:g.22072C>A , LRG_690:g.22072C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.622C>A	ENSP00000394863.4:p.Arg208=
ENST00000439754.6:c.625C>A	ENSP00000403207.2:p.Arg209=
ENST00000449045.7:c.316C>A	ENSP00000392293.2:p.Arg106=
ENST00000527311.7:c.394C>A	ENSP00000436695.3:p.Arg132=
ENST00000530076.6:c.-33C>A	ENSP00000434007.1:n.-33C>A
ENST00000530704.6:c.*248C>A	ENSP00000431655.1:n.*248C>A
ENST00000641083.1:c.603C>A
ENST00000641236.1:n.862C>A
ENST00000641319.1:c.625C>A	ENSP00000493128.1:p.Arg209=
ENST00000641381.1:c.149-3486C>A
ENST00000641471.1:c.712C>A	ENSP00000493146.1:p.Arg238=
ENST00000641691.1:c.*477C>A	ENSP00000492910.1:n.*477C>A
ENST00000641924.1:c.*54C>A	ENSP00000493063.1:n.*54C>A
ENST00000642050.2:c.625C>A MANE Select	ENSP00000493153.1:p.Arg209=
ENST00000372779.8:c.712C>A	ENSP00000361865.4:p.Arg238=
ENST00000433473.7:c.625C>A	ENSP00000394863.3:p.Arg209=
ENST00000439754.5:c.310C>A	ENSP00000403207.1:p.Arg104=
ENST00000449045.6:c.316C>A	ENSP00000392293.2:p.Arg106=
ENST00000527311.6:c.400C>A	ENSP00000436695.2:p.Arg134=
ENST00000529905.5:c.625C>A	ENSP00000432053.1:p.Arg209=
ENST00000530076.5:c.-33C>A	ENSP00000434007.1:n.-33C>A
ENST00000530704.5:c.*248C>A	ENSP00000431655.1:n.*248C>A
NM_000310.3:c.625C>A , LRG_690t1:c.625C>A	NP_000301.1:p.Arg209=
NM_001142604.1:c.316C>A	NP_001136076.1:p.Arg106=
XM_005271008.1:c.625C>A	XP_005271065.1:p.Arg209=
NM_001363695.1:c.625C>A	NP_001350624.1:p.Arg209=
NM_000310.4:c.625C>A MANE Select	NP_000301.1:p.Arg209=
NM_001142604.2:c.316C>A	NP_001136076.1:p.Arg106=
NM_001363695.2:c.625C>A	NP_001350624.1:p.Arg209=