Canonical Allele Identifier: CA417321996

Gene: PPT1

Linked Data

• gnomAD v4: 1-40074127-T-C
• MyVariant Identifiers: chr1:g.40539799T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074127T>C , CM000663.2:g.40074127T>C	GRCh38
NC_000001.10:g.40539799T>C , CM000663.1:g.40539799T>C	GRCh37
NC_000001.9:g.40312386T>C	NCBI36
NG_009192.1:g.28344A>G , LRG_690:g.28344A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.852A>G	ENSP00000394863.4:p.Thr284=
ENST00000439754.6:c.783A>G	ENSP00000403207.2:p.Thr261=
ENST00000449045.7:c.546A>G	ENSP00000392293.2:p.Thr182=
ENST00000527311.7:c.624A>G	ENSP00000436695.3:p.Thr208=
ENST00000530076.6:c.198A>G	ENSP00000434007.1:p.Thr66=
ENST00000530704.6:c.*478A>G	ENSP00000431655.1:n.*478A>G
ENST00000641083.1:c.945A>G
ENST00000641236.1:n.1092A>G
ENST00000641319.1:c.*65A>G	ENSP00000493128.1:n.*65A>G
ENST00000641381.1:c.277A>G
ENST00000641471.1:c.942A>G	ENSP00000493146.1:p.Thr314=
ENST00000641691.1:c.*707A>G	ENSP00000492910.1:n.*707A>G
ENST00000641924.1:c.*284A>G	ENSP00000493063.1:n.*284A>G
ENST00000642050.2:c.855A>G MANE Select	ENSP00000493153.1:p.Thr285=
ENST00000372775.2:n.252A>G
ENST00000433473.7:c.855A>G	ENSP00000394863.3:p.Thr285=
ENST00000439754.5:c.468A>G	ENSP00000403207.1:p.Thr156=
ENST00000449045.6:c.546A>G	ENSP00000392293.2:p.Thr182=
ENST00000529905.5:c.855A>G	ENSP00000432053.1:p.Thr285=
ENST00000530076.5:c.198A>G	ENSP00000434007.1:p.Thr66=
ENST00000530704.5:c.*478A>G	ENSP00000431655.1:n.*478A>G
NM_000310.3:c.855A>G , LRG_690t1:c.855A>G	NP_000301.1:p.Thr285=
NM_001142604.1:c.546A>G	NP_001136076.1:p.Thr182=
XM_005271008.1:c.783A>G	XP_005271065.1:p.Thr261=
NM_001363695.1:c.783A>G	NP_001350624.1:p.Thr261=
NM_000310.4:c.855A>G MANE Select	NP_000301.1:p.Thr285=
NM_001142604.2:c.546A>G	NP_001136076.1:p.Thr182=
NM_001363695.2:c.783A>G	NP_001350624.1:p.Thr261=