Canonical Allele Identifier: CA735694545

Gene: PPT1

Linked Data

• dbSNP Id: rs1269945388
• gnomAD v3: 1-40092251-T-TTAG
• gnomAD v4: 1-40092251-T-TTAG
• MyVariant Identifiers: chr1:g.40557923_40557924insTAG (hg19) ; chr1:g.40092251_40092252insTAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092252_40092254dup , CM000663.2:g.40092252_40092254dup	GRCh38
NC_000001.10:g.40557924_40557926dup , CM000663.1:g.40557924_40557926dup	GRCh37
NC_000001.9:g.40330511_40330513dup	NCBI36
NG_009192.1:g.10217_10219dup , LRG_690:g.10217_10219dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*71-82_*71-80dup	ENSP00000361865.5:n.*71-82_*71-80dup
ENST00000433473.8:c.232-82_232-80dup	ENSP00000394863.4:n.232-82_232-80dup
ENST00000439754.6:c.235-82_235-80dup	ENSP00000403207.2:n.235-82_235-80dup
ENST00000449045.7:c.125-2742_125-2740dup	ENSP00000392293.2:n.125-2742_125-2740dup
ENST00000526547.2:c.515-82_515-80dup
ENST00000527311.7:c.234+144_234+146dup	ENSP00000436695.3:n.234+144_234+146dup
ENST00000530704.6:c.235-82_235-80dup	ENSP00000431655.1:n.235-82_235-80dup
ENST00000641083.1:c.213-82_213-80dup
ENST00000641236.1:n.390_392dup
ENST00000641319.1:c.235-82_235-80dup	ENSP00000493128.1:n.235-82_235-80dup
ENST00000641471.1:c.322-82_322-80dup	ENSP00000493146.1:n.322-82_322-80dup
ENST00000641548.1:c.*87-82_*87-80dup	ENSP00000492984.1:n.*87-82_*87-80dup
ENST00000641691.1:c.*87-82_*87-80dup	ENSP00000492910.1:n.*87-82_*87-80dup
ENST00000641924.1:c.124+4861_124+4863dup	ENSP00000493063.1:n.124+4861_124+4863dup
ENST00000642050.2:c.235-82_235-80dup MANE Select	ENSP00000493153.1:n.235-82_235-80dup
ENST00000372779.8:c.322-82_322-80dup	ENSP00000361865.4:n.322-82_322-80dup
ENST00000433473.7:c.235-82_235-80dup	ENSP00000394863.3:n.235-82_235-80dup
ENST00000449045.6:c.125-2742_125-2740dup	ENSP00000392293.2:n.125-2742_125-2740dup
ENST00000526547.1:c.85-82_85-80dup	ENSP00000436481.1:n.85-82_85-80dup
ENST00000527311.6:c.125-197_125-195dup	ENSP00000436695.2:n.125-197_125-195dup
ENST00000529905.5:c.235-82_235-80dup	ENSP00000432053.1:n.235-82_235-80dup
ENST00000530704.5:c.235-82_235-80dup	ENSP00000431655.1:n.235-82_235-80dup
NM_000310.3:c.235-82_235-80dup , LRG_690t1:c.235-82_235-80dup	NP_000301.1:n.235-82_235-80dup
NM_001142604.1:c.125-2742_125-2740dup	NP_001136076.1:n.125-2742_125-2740dup
XM_005271008.1:c.235-82_235-80dup	XP_005271065.1:n.235-82_235-80dup
NM_001363695.1:c.235-82_235-80dup	NP_001350624.1:n.235-82_235-80dup
NM_000310.4:c.235-82_235-80dup MANE Select	NP_000301.1:n.235-82_235-80dup
NM_001142604.2:c.125-2742_125-2740dup	NP_001136076.1:n.125-2742_125-2740dup
NM_001363695.2:c.235-82_235-80dup	NP_001350624.1:n.235-82_235-80dup