Canonical Allele Identifier: CA522421276

Gene: PPT1

Linked Data

• dbSNP Id: rs1455401527
• gnomAD v2: 1-40557691-GTA-G
• gnomAD v3: 1-40092019-GTA-G
• gnomAD v4: 1-40092019-GTA-G
• MyVariant Identifiers: chr1:g.40557692_40557693del (hg19) ; chr1:g.40092020_40092021del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092020_40092021del , CM000663.2:g.40092020_40092021del	GRCh38
NC_000001.10:g.40557692_40557693del , CM000663.1:g.40557692_40557693del	GRCh37
NC_000001.9:g.40330279_40330280del	NCBI36
NG_009192.1:g.10450_10451del , LRG_690:g.10450_10451del

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*198+24_*198+25del	ENSP00000361865.5:n.*198+24_*198+25del
ENST00000433473.8:c.359+24_359+25del	ENSP00000394863.4:n.359+24_359+25del
ENST00000439754.6:c.362+24_362+25del	ENSP00000403207.2:n.362+24_362+25del
ENST00000449045.7:c.125-2509_125-2508del	ENSP00000392293.2:n.125-2509_125-2508del
ENST00000526547.2:c.642+24_642+25del
ENST00000527311.7:c.234+377_234+378del	ENSP00000436695.3:n.234+377_234+378del
ENST00000530704.6:c.362+24_362+25del	ENSP00000431655.1:n.362+24_362+25del
ENST00000641083.1:c.340+24_340+25del
ENST00000641236.1:n.599+24_599+25del
ENST00000641319.1:c.362+24_362+25del	ENSP00000493128.1:n.362+24_362+25del
ENST00000641471.1:c.449+24_449+25del	ENSP00000493146.1:n.449+24_449+25del
ENST00000641548.1:c.*214+24_*214+25del	ENSP00000492984.1:n.*214+24_*214+25del
ENST00000641691.1:c.*214+24_*214+25del	ENSP00000492910.1:n.*214+24_*214+25del
ENST00000641924.1:c.124+5094_124+5095del	ENSP00000493063.1:n.124+5094_124+5095del
ENST00000642050.2:c.362+24_362+25del MANE Select	ENSP00000493153.1:n.362+24_362+25del
ENST00000372779.8:c.449+24_449+25del	ENSP00000361865.4:n.449+24_449+25del
ENST00000433473.7:c.362+24_362+25del	ENSP00000394863.3:n.362+24_362+25del
ENST00000439754.5:c.47+24_47+25del	ENSP00000403207.1:n.47+24_47+25del
ENST00000449045.6:c.125-2509_125-2508del	ENSP00000392293.2:n.125-2509_125-2508del
ENST00000526547.1:c.212+24_212+25del	ENSP00000436481.1:n.212+24_212+25del
ENST00000527311.6:c.137+24_137+25del	ENSP00000436695.2:n.137+24_137+25del
ENST00000529905.5:c.362+24_362+25del	ENSP00000432053.1:n.362+24_362+25del
ENST00000530704.5:c.362+24_362+25del	ENSP00000431655.1:n.362+24_362+25del
NM_000310.3:c.362+24_362+25del , LRG_690t1:c.362+24_362+25del	NP_000301.1:n.362+24_362+25del
NM_001142604.1:c.125-2509_125-2508del	NP_001136076.1:n.125-2509_125-2508del
XM_005271008.1:c.362+24_362+25del	XP_005271065.1:n.362+24_362+25del
NM_001363695.1:c.362+24_362+25del	NP_001350624.1:n.362+24_362+25del
NM_000310.4:c.362+24_362+25del MANE Select	NP_000301.1:n.362+24_362+25del
NM_001142604.2:c.125-2509_125-2508del	NP_001136076.1:n.125-2509_125-2508del
NM_001363695.2:c.362+24_362+25del	NP_001350624.1:n.362+24_362+25del