Canonical Allele Identifier: CA263521

Gene: PPT1

Linked Data

• ClinVar Variation Id: 56202
• ClinVar RCV Id: RCV002222156
• dbSNP Id: rs148412181
• ExAC: 1:40546155 C / A
• gnomAD v2: 1-40546155-C-A
• gnomAD v3: 1-40080483-C-A
• gnomAD v4: 1-40080483-C-A
• MyVariant Identifiers: chr1:g.40546155C>A (hg19) ; chr1:g.40080483C>A (hg38)
• PubMed: PMID:10477428 ; PMID:19302939 ; PMID:21499717 ; PMID:21990111

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080483C>A , CM000663.2:g.40080483C>A	GRCh38
NC_000001.10:g.40546155C>A , CM000663.1:g.40546155C>A	GRCh37
NC_000001.9:g.40318742C>A	NCBI36
NG_009192.1:g.21988G>T , LRG_690:g.21988G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*377G>T	ENSP00000361865.5:n.*377G>T
ENST00000433473.8:c.538G>T	ENSP00000394863.4:p.Val180Leu
ENST00000439754.6:c.541G>T	ENSP00000403207.2:p.Val181Leu
ENST00000449045.7:c.232G>T	ENSP00000392293.2:p.Val78Leu
ENST00000527311.7:c.310G>T	ENSP00000436695.3:p.Val104Leu
ENST00000530076.6:c.-117G>T	ENSP00000434007.1:n.-117G>T
ENST00000530704.6:c.*164G>T	ENSP00000431655.1:n.*164G>T
ENST00000641083.1:c.519G>T
ENST00000641236.1:n.778G>T
ENST00000641319.1:c.541G>T	ENSP00000493128.1:p.Val181Leu
ENST00000641381.1:c.149-3570G>T
ENST00000641471.1:c.628G>T	ENSP00000493146.1:p.Val210Leu
ENST00000641691.1:c.*393G>T	ENSP00000492910.1:n.*393G>T
ENST00000641924.1:c.129G>T	ENSP00000493063.1:p.Ser43=
ENST00000642050.2:c.541G>T MANE Select	ENSP00000493153.1:p.Val181Leu
ENST00000372779.8:c.628G>T	ENSP00000361865.4:p.Val210Leu
ENST00000433473.7:c.541G>T	ENSP00000394863.3:p.Val181Leu
ENST00000439754.5:c.226G>T	ENSP00000403207.1:p.Val76Leu
ENST00000449045.6:c.232G>T	ENSP00000392293.2:p.Val78Leu
ENST00000527311.6:c.316G>T	ENSP00000436695.2:p.Val106Leu
ENST00000529905.5:c.541G>T	ENSP00000432053.1:p.Val181Leu
ENST00000530076.5:c.-117G>T	ENSP00000434007.1:n.-117G>T
ENST00000530704.5:c.*164G>T	ENSP00000431655.1:n.*164G>T
NM_000310.3:c.541G>T , LRG_690t1:c.541G>T	NP_000301.1:p.Val181Leu
NM_001142604.1:c.232G>T	NP_001136076.1:p.Val78Leu
XM_005271008.1:c.541G>T	XP_005271065.1:p.Val181Leu
NM_001363695.1:c.541G>T	NP_001350624.1:p.Val181Leu
NM_000310.4:c.541G>T MANE Select	NP_000301.1:p.Val181Leu
NM_001142604.2:c.232G>T	NP_001136076.1:p.Val78Leu
NM_001363695.2:c.541G>T	NP_001350624.1:p.Val181Leu