Canonical Allele Identifier: CA417322246

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40546069C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080397C>A , CM000663.2:g.40080397C>A	GRCh38
NC_000001.10:g.40546069C>A , CM000663.1:g.40546069C>A	GRCh37
NC_000001.9:g.40318656C>A	NCBI36
NG_009192.1:g.22074G>T , LRG_690:g.22074G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.624G>T	ENSP00000394863.4:p.Arg208=
ENST00000439754.6:c.627G>T	ENSP00000403207.2:p.Arg209=
ENST00000449045.7:c.318G>T	ENSP00000392293.2:p.Arg106=
ENST00000527311.7:c.396G>T	ENSP00000436695.3:p.Arg132=
ENST00000530076.6:c.-31G>T	ENSP00000434007.1:n.-31G>T
ENST00000530704.6:c.*250G>T	ENSP00000431655.1:n.*250G>T
ENST00000641083.1:c.605G>T
ENST00000641236.1:n.864G>T
ENST00000641319.1:c.627G>T	ENSP00000493128.1:p.Arg209=
ENST00000641381.1:c.149-3484G>T
ENST00000641471.1:c.714G>T	ENSP00000493146.1:p.Arg238=
ENST00000641691.1:c.*479G>T	ENSP00000492910.1:n.*479G>T
ENST00000641924.1:c.*56G>T	ENSP00000493063.1:n.*56G>T
ENST00000642050.2:c.627G>T MANE Select	ENSP00000493153.1:p.Arg209=
ENST00000372779.8:c.714G>T	ENSP00000361865.4:p.Arg238=
ENST00000433473.7:c.627G>T	ENSP00000394863.3:p.Arg209=
ENST00000439754.5:c.312G>T	ENSP00000403207.1:p.Arg104=
ENST00000449045.6:c.318G>T	ENSP00000392293.2:p.Arg106=
ENST00000527311.6:c.402G>T	ENSP00000436695.2:p.Arg134=
ENST00000529905.5:c.627G>T	ENSP00000432053.1:p.Arg209=
ENST00000530076.5:c.-31G>T	ENSP00000434007.1:n.-31G>T
ENST00000530704.5:c.*250G>T	ENSP00000431655.1:n.*250G>T
NM_000310.3:c.627G>T , LRG_690t1:c.627G>T	NP_000301.1:p.Arg209=
NM_001142604.1:c.318G>T	NP_001136076.1:p.Arg106=
XM_005271008.1:c.627G>T	XP_005271065.1:p.Arg209=
NM_001363695.1:c.627G>T	NP_001350624.1:p.Arg209=
NM_000310.4:c.627G>T MANE Select	NP_000301.1:p.Arg209=
NM_001142604.2:c.318G>T	NP_001136076.1:p.Arg106=
NM_001363695.2:c.627G>T	NP_001350624.1:p.Arg209=