Canonical Allele Identifier: CA789618

Gene: PPT1

Linked Data

• ClinVar Variation Id: 1200345
• ClinVar RCV Id: RCV001565338
• dbSNP Id: rs151295763
• ExAC: 1:40544492 CT / C
• gnomAD v2: 1-40544492-CT-C
• gnomAD v3: 1-40078820-CT-C
• gnomAD v4: 1-40078820-CT-C
• COSMIC: COSN23014351
• MyVariant Identifiers: chr1:g.40544493del (hg19) ; chr1:g.40078821del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078830del , CM000663.2:g.40078830del	GRCh38
NC_000001.10:g.40544502del , CM000663.1:g.40544502del	GRCh37
NC_000001.9:g.40317089del	NCBI36
NG_009192.1:g.23650del , LRG_690:g.23650del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.625-163del	ENSP00000394863.4:n.625-163del
ENST00000439754.6:c.628-163del	ENSP00000403207.2:n.628-163del
ENST00000449045.7:c.319-163del	ENSP00000392293.2:n.319-163del
ENST00000527311.7:c.397-163del	ENSP00000436695.3:n.397-163del
ENST00000530076.6:c.-30-163del	ENSP00000434007.1:n.-30-163del
ENST00000530704.6:c.*251-163del	ENSP00000431655.1:n.*251-163del
ENST00000641083.1:c.606-163del
ENST00000641236.1:n.865-163del
ENST00000641319.1:c.628-163del	ENSP00000493128.1:n.628-163del
ENST00000641381.1:c.149-1908del
ENST00000641471.1:c.715-163del	ENSP00000493146.1:n.715-163del
ENST00000641691.1:c.*480-163del	ENSP00000492910.1:n.*480-163del
ENST00000641924.1:c.*57-163del	ENSP00000493063.1:n.*57-163del
ENST00000642050.2:c.628-163del MANE Select	ENSP00000493153.1:n.628-163del
ENST00000372775.2:n.15del
ENST00000372779.8:c.715-163del	ENSP00000361865.4:n.715-163del
ENST00000433473.7:c.628-163del	ENSP00000394863.3:n.628-163del
ENST00000439754.5:c.313-163del	ENSP00000403207.1:n.313-163del
ENST00000449045.6:c.319-163del	ENSP00000392293.2:n.319-163del
ENST00000527311.6:c.403-163del	ENSP00000436695.2:n.403-163del
ENST00000529905.5:c.628-163del	ENSP00000432053.1:n.628-163del
ENST00000530076.5:c.-30-163del	ENSP00000434007.1:n.-30-163del
ENST00000530704.5:c.*251-163del	ENSP00000431655.1:n.*251-163del
NM_000310.3:c.628-163del , LRG_690t1:c.628-163del	NP_000301.1:n.628-163del
NM_001142604.1:c.319-163del	NP_001136076.1:n.319-163del
XM_005271008.1:c.628-163del	XP_005271065.1:n.628-163del
NM_001363695.1:c.628-163del	NP_001350624.1:n.628-163del
NM_000310.4:c.628-163del MANE Select	NP_000301.1:n.628-163del
NM_001142604.2:c.319-163del	NP_001136076.1:n.319-163del
NM_001363695.2:c.628-163del	NP_001350624.1:n.628-163del