Canonical Allele Identifier: CA789540

Gene: PPT1

Linked Data

• ClinVar Variation Id: 1673548
• ClinVar RCV Id: RCV002213925 ; RCV002373046
• dbSNP Id: rs747432731
• ExAC: 1:40539754 G / A
• gnomAD v2: 1-40539754-G-A
• gnomAD v3: 1-40074082-G-A
• gnomAD v4: 1-40074082-G-A
• MyVariant Identifiers: chr1:g.40539754G>A (hg19) ; chr1:g.40074082G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074082G>A , CM000663.2:g.40074082G>A	GRCh38
NC_000001.10:g.40539754G>A , CM000663.1:g.40539754G>A	GRCh37
NC_000001.9:g.40312341G>A	NCBI36
NG_009192.1:g.28389C>T , LRG_690:g.28389C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.897C>T	ENSP00000394863.4:p.His299=
ENST00000439754.6:c.828C>T	ENSP00000403207.2:p.His276=
ENST00000449045.7:c.591C>T	ENSP00000392293.2:p.His197=
ENST00000530076.6:c.243C>T	ENSP00000434007.1:p.His81=
ENST00000530704.6:c.*523C>T	ENSP00000431655.1:n.*523C>T
ENST00000641083.1:c.990C>T
ENST00000641236.1:n.1137C>T
ENST00000641319.1:c.*110C>T	ENSP00000493128.1:n.*110C>T
ENST00000641381.1:c.322C>T
ENST00000641471.1:c.987C>T	ENSP00000493146.1:p.His329=
ENST00000641691.1:c.*752C>T	ENSP00000492910.1:n.*752C>T
ENST00000641924.1:c.*329C>T	ENSP00000493063.1:n.*329C>T
ENST00000642050.2:c.900C>T MANE Select	ENSP00000493153.1:p.His300=
ENST00000372775.2:n.297C>T
ENST00000433473.7:c.900C>T	ENSP00000394863.3:p.His300=
ENST00000439754.5:c.513C>T	ENSP00000403207.1:p.His171=
ENST00000449045.6:c.591C>T	ENSP00000392293.2:p.His197=
ENST00000529905.5:c.900C>T	ENSP00000432053.1:p.His300=
ENST00000530076.5:c.243C>T	ENSP00000434007.1:p.His81=
ENST00000530704.5:c.*523C>T	ENSP00000431655.1:n.*523C>T
NM_000310.3:c.900C>T , LRG_690t1:c.900C>T	NP_000301.1:p.His300=
NM_001142604.1:c.591C>T	NP_001136076.1:p.His197=
XM_005271008.1:c.828C>T	XP_005271065.1:p.His276=
NM_001363695.1:c.828C>T	NP_001350624.1:p.His276=
NM_000310.4:c.900C>T MANE Select	NP_000301.1:p.His300=
NM_001142604.2:c.591C>T	NP_001136076.1:p.His197=
NM_001363695.2:c.828C>T	NP_001350624.1:p.His276=