Canonical Allele Identifier: CA247056

Gene: PPT1

Linked Data

• ClinVar Variation Id: 198413
• ClinVar RCV Id: RCV000179745 ; RCV000670818
• dbSNP Id: rs746043871
• ExAC: 1:40544236 G / A
• gnomAD v2: 1-40544236-G-A
• gnomAD v3: 1-40078564-G-A
• gnomAD v4: 1-40078564-G-A
• MyVariant Identifiers: chr1:g.40544236G>A (hg19) ; chr1:g.40078564G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078564G>A , CM000663.2:g.40078564G>A	GRCh38
NC_000001.10:g.40544236G>A , CM000663.1:g.40544236G>A	GRCh37
NC_000001.9:g.40316823G>A	NCBI36
NG_009192.1:g.23907C>T , LRG_690:g.23907C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.719C>T	ENSP00000394863.4:p.Ser240Leu
ENST00000439754.6:c.722C>T	ENSP00000403207.2:p.Ser241Leu
ENST00000449045.7:c.413C>T	ENSP00000392293.2:p.Ser138Leu
ENST00000527311.7:c.491C>T	ENSP00000436695.3:p.Ser164Leu
ENST00000530076.6:c.65C>T	ENSP00000434007.1:p.Ser22Leu
ENST00000530704.6:c.*345C>T	ENSP00000431655.1:n.*345C>T
ENST00000641083.1:c.700C>T
ENST00000641236.1:n.959C>T
ENST00000641319.1:c.722C>T	ENSP00000493128.1:p.Ser241Leu
ENST00000641381.1:c.149-1651C>T
ENST00000641471.1:c.809C>T	ENSP00000493146.1:p.Ser270Leu
ENST00000641691.1:c.*574C>T	ENSP00000492910.1:n.*574C>T
ENST00000641924.1:c.*151C>T	ENSP00000493063.1:n.*151C>T
ENST00000642050.2:c.722C>T MANE Select	ENSP00000493153.1:p.Ser241Leu
ENST00000372775.2:n.119C>T
ENST00000372779.8:c.809C>T	ENSP00000361865.4:p.Ser270Leu
ENST00000433473.7:c.722C>T	ENSP00000394863.3:p.Ser241Leu
ENST00000439754.5:c.407C>T	ENSP00000403207.1:p.Ser136Leu
ENST00000449045.6:c.413C>T	ENSP00000392293.2:p.Ser138Leu
ENST00000527311.6:c.497C>T	ENSP00000436695.2:p.Ser166Leu
ENST00000529905.5:c.722C>T	ENSP00000432053.1:p.Ser241Leu
ENST00000530076.5:c.65C>T	ENSP00000434007.1:p.Ser22Leu
ENST00000530704.5:c.*345C>T	ENSP00000431655.1:n.*345C>T
NM_000310.3:c.722C>T , LRG_690t1:c.722C>T	NP_000301.1:p.Ser241Leu
NM_001142604.1:c.413C>T	NP_001136076.1:p.Ser138Leu
XM_005271008.1:c.722C>T	XP_005271065.1:p.Ser241Leu
NM_001363695.1:c.722C>T	NP_001350624.1:p.Ser241Leu
NM_000310.4:c.722C>T MANE Select	NP_000301.1:p.Ser241Leu
NM_001142604.2:c.413C>T	NP_001136076.1:p.Ser138Leu
NM_001363695.2:c.722C>T	NP_001350624.1:p.Ser241Leu