Canonical Allele Identifier: CA21007514

Gene: PPT1

Linked Data

• ClinVar Variation Id: 575957
• ClinVar RCV Id: RCV000698317 ; RCV002533520
• dbSNP Id: rs939858453
• gnomAD v2: 1-40546109-C-T
• gnomAD v3: 1-40080437-C-T
• gnomAD v4: 1-40080437-C-T
• COSMIC: COSM4007891
• MyVariant Identifiers: chr1:g.40546109C>T (hg19) ; chr1:g.40080437C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080437C>T , CM000663.2:g.40080437C>T	GRCh38
NC_000001.10:g.40546109C>T , CM000663.1:g.40546109C>T	GRCh37
NC_000001.9:g.40318696C>T	NCBI36
NG_009192.1:g.22034G>A , LRG_690:g.22034G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.584G>A	ENSP00000394863.4:p.Arg195His
ENST00000439754.6:c.587G>A	ENSP00000403207.2:p.Arg196His
ENST00000449045.7:c.278G>A	ENSP00000392293.2:p.Arg93His
ENST00000527311.7:c.356G>A	ENSP00000436695.3:p.Arg119His
ENST00000530076.6:c.-71G>A	ENSP00000434007.1:n.-71G>A
ENST00000530704.6:c.*210G>A	ENSP00000431655.1:n.*210G>A
ENST00000641083.1:c.565G>A
ENST00000641236.1:n.824G>A
ENST00000641319.1:c.587G>A	ENSP00000493128.1:p.Arg196His
ENST00000641381.1:c.149-3524G>A
ENST00000641471.1:c.674G>A	ENSP00000493146.1:p.Arg225His
ENST00000641691.1:c.*439G>A	ENSP00000492910.1:n.*439G>A
ENST00000641924.1:c.*16G>A	ENSP00000493063.1:n.*16G>A
ENST00000642050.2:c.587G>A MANE Select	ENSP00000493153.1:p.Arg196His
ENST00000372779.8:c.674G>A	ENSP00000361865.4:p.Arg225His
ENST00000433473.7:c.587G>A	ENSP00000394863.3:p.Arg196His
ENST00000439754.5:c.272G>A	ENSP00000403207.1:p.Arg91His
ENST00000449045.6:c.278G>A	ENSP00000392293.2:p.Arg93His
ENST00000527311.6:c.362G>A	ENSP00000436695.2:p.Arg121His
ENST00000529905.5:c.587G>A	ENSP00000432053.1:p.Arg196His
ENST00000530076.5:c.-71G>A	ENSP00000434007.1:n.-71G>A
ENST00000530704.5:c.*210G>A	ENSP00000431655.1:n.*210G>A
NM_000310.3:c.587G>A , LRG_690t1:c.587G>A	NP_000301.1:p.Arg196His
NM_001142604.1:c.278G>A	NP_001136076.1:p.Arg93His
XM_005271008.1:c.587G>A	XP_005271065.1:p.Arg196His
NM_001363695.1:c.587G>A	NP_001350624.1:p.Arg196His
NM_000310.4:c.587G>A MANE Select	NP_000301.1:p.Arg196His
NM_001142604.2:c.278G>A	NP_001136076.1:p.Arg93His
NM_001363695.2:c.587G>A	NP_001350624.1:p.Arg196His