Canonical Allele Identifier: CA417321965

Gene: PPT1

Linked Data

• ClinVar Variation Id: 1117796
• ClinVar RCV Id: RCV001446701
• dbSNP Id: rs2124465491
• MyVariant Identifiers: chr1:g.40539757G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074085G>T , CM000663.2:g.40074085G>T	GRCh38
NC_000001.10:g.40539757G>T , CM000663.1:g.40539757G>T	GRCh37
NC_000001.9:g.40312344G>T	NCBI36
NG_009192.1:g.28386C>A , LRG_690:g.28386C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.894C>A	ENSP00000394863.4:p.Ala298=
ENST00000439754.6:c.825C>A	ENSP00000403207.2:p.Ala275=
ENST00000449045.7:c.588C>A	ENSP00000392293.2:p.Ala196=
ENST00000530076.6:c.240C>A	ENSP00000434007.1:p.Ala80=
ENST00000530704.6:c.*520C>A	ENSP00000431655.1:n.*520C>A
ENST00000641083.1:c.987C>A
ENST00000641236.1:n.1134C>A
ENST00000641319.1:c.*107C>A	ENSP00000493128.1:n.*107C>A
ENST00000641381.1:c.319C>A
ENST00000641471.1:c.984C>A	ENSP00000493146.1:p.Ala328=
ENST00000641691.1:c.*749C>A	ENSP00000492910.1:n.*749C>A
ENST00000641924.1:c.*326C>A	ENSP00000493063.1:n.*326C>A
ENST00000642050.2:c.897C>A MANE Select	ENSP00000493153.1:p.Ala299=
ENST00000372775.2:n.294C>A
ENST00000433473.7:c.897C>A	ENSP00000394863.3:p.Ala299=
ENST00000439754.5:c.510C>A	ENSP00000403207.1:p.Ala170=
ENST00000449045.6:c.588C>A	ENSP00000392293.2:p.Ala196=
ENST00000529905.5:c.897C>A	ENSP00000432053.1:p.Ala299=
ENST00000530076.5:c.240C>A	ENSP00000434007.1:p.Ala80=
ENST00000530704.5:c.*520C>A	ENSP00000431655.1:n.*520C>A
NM_000310.3:c.897C>A , LRG_690t1:c.897C>A	NP_000301.1:p.Ala299=
NM_001142604.1:c.588C>A	NP_001136076.1:p.Ala196=
XM_005271008.1:c.825C>A	XP_005271065.1:p.Ala275=
NM_001363695.1:c.825C>A	NP_001350624.1:p.Ala275=
NM_000310.4:c.897C>A MANE Select	NP_000301.1:p.Ala299=
NM_001142604.2:c.588C>A	NP_001136076.1:p.Ala196=
NM_001363695.2:c.825C>A	NP_001350624.1:p.Ala275=