Canonical Allele Identifier: CA522417211

Gene: PPT1

Linked Data

• dbSNP Id: rs1373631929
• gnomAD v2: 1-40539727-CG-C
• gnomAD v3: 1-40074055-CG-C
• gnomAD v4: 1-40074055-CG-C
• MyVariant Identifiers: chr1:g.40539728del (hg19) ; chr1:g.40074056del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074058del , CM000663.2:g.40074058del	GRCh38
NC_000001.10:g.40539730del , CM000663.1:g.40539730del	GRCh37
NC_000001.9:g.40312317del	NCBI36
NG_009192.1:g.28415del , LRG_690:g.28415del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.*5del	ENSP00000394863.4:n.*5del
ENST00000439754.6:c.*5del	ENSP00000403207.2:n.*5del
ENST00000449045.7:c.*5del	ENSP00000392293.2:n.*5del
ENST00000530076.6:c.*5del	ENSP00000434007.1:n.*5del
ENST00000530704.6:c.*549del	ENSP00000431655.1:n.*549del
ENST00000641083.1:c.1016del
ENST00000641236.1:n.1163del
ENST00000641319.1:c.*136del	ENSP00000493128.1:n.*136del
ENST00000641381.1:c.348del
ENST00000641471.1:c.*5del	ENSP00000493146.1:n.*5del
ENST00000641691.1:c.*778del	ENSP00000492910.1:n.*778del
ENST00000641924.1:c.*355del	ENSP00000493063.1:n.*355del
ENST00000642050.2:c.*5del MANE Select	ENSP00000493153.1:n.*5del
ENST00000372775.2:n.323del
ENST00000433473.7:c.*5del	ENSP00000394863.3:n.*5del
ENST00000439754.5:c.539del	ENSP00000403207.1:n.539del
ENST00000449045.6:c.*5del	ENSP00000392293.2:n.*5del
ENST00000529905.5:c.*5del	ENSP00000432053.1:n.*5del
ENST00000530076.5:c.*5del	ENSP00000434007.1:n.*5del
ENST00000530704.5:c.*549del	ENSP00000431655.1:n.*549del
NM_000310.3:c.*5del , LRG_690t1:c.*5del	NP_000301.1:n.*5del
NM_001142604.1:c.*5del	NP_001136076.1:n.*5del
XM_005271008.1:c.*5del	XP_005271065.1:n.*5del
NM_001363695.1:c.*5del	NP_001350624.1:n.*5del
NM_000310.4:c.*5del MANE Select	NP_000301.1:n.*5del
NM_001142604.2:c.*5del	NP_001136076.1:n.*5del
NM_001363695.2:c.*5del	NP_001350624.1:n.*5del