Canonical Allele Identifier: CA522421260

Gene: PPT1

Linked Data

• dbSNP Id: rs1464811018
• gnomAD v2: 1-40557672-AATC-A
• gnomAD v4: 1-40092000-AATC-A
• MyVariant Identifiers: chr1:g.40557673_40557675del (hg19) ; chr1:g.40092001_40092003del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092002_40092004del , CM000663.2:g.40092002_40092004del	GRCh38
NC_000001.10:g.40557674_40557676del , CM000663.1:g.40557674_40557676del	GRCh37
NC_000001.9:g.40330261_40330263del	NCBI36
NG_009192.1:g.10468_10470del , LRG_690:g.10468_10470del

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*198+42_*198+44del	ENSP00000361865.5:n.*198+42_*198+44del
ENST00000433473.8:c.359+42_359+44del	ENSP00000394863.4:n.359+42_359+44del
ENST00000439754.6:c.362+42_362+44del	ENSP00000403207.2:n.362+42_362+44del
ENST00000449045.7:c.125-2491_125-2489del	ENSP00000392293.2:n.125-2491_125-2489del
ENST00000526547.2:c.642+42_642+44del
ENST00000527311.7:c.234+395_234+397del	ENSP00000436695.3:n.234+395_234+397del
ENST00000530704.6:c.362+42_362+44del	ENSP00000431655.1:n.362+42_362+44del
ENST00000641083.1:c.340+42_340+44del
ENST00000641236.1:n.599+42_599+44del
ENST00000641319.1:c.362+42_362+44del	ENSP00000493128.1:n.362+42_362+44del
ENST00000641471.1:c.449+42_449+44del	ENSP00000493146.1:n.449+42_449+44del
ENST00000641548.1:c.*214+42_*214+44del	ENSP00000492984.1:n.*214+42_*214+44del
ENST00000641691.1:c.*214+42_*214+44del	ENSP00000492910.1:n.*214+42_*214+44del
ENST00000641924.1:c.124+5112_124+5114del	ENSP00000493063.1:n.124+5112_124+5114del
ENST00000642050.2:c.362+42_362+44del MANE Select	ENSP00000493153.1:n.362+42_362+44del
ENST00000372779.8:c.449+42_449+44del	ENSP00000361865.4:n.449+42_449+44del
ENST00000433473.7:c.362+42_362+44del	ENSP00000394863.3:n.362+42_362+44del
ENST00000439754.5:c.47+42_47+44del	ENSP00000403207.1:n.47+42_47+44del
ENST00000449045.6:c.125-2491_125-2489del	ENSP00000392293.2:n.125-2491_125-2489del
ENST00000526547.1:c.212+42_212+44del	ENSP00000436481.1:n.212+42_212+44del
ENST00000527311.6:c.137+42_137+44del	ENSP00000436695.2:n.137+42_137+44del
ENST00000529905.5:c.362+42_362+44del	ENSP00000432053.1:n.362+42_362+44del
ENST00000530704.5:c.362+42_362+44del	ENSP00000431655.1:n.362+42_362+44del
NM_000310.3:c.362+42_362+44del , LRG_690t1:c.362+42_362+44del	NP_000301.1:n.362+42_362+44del
NM_001142604.1:c.125-2491_125-2489del	NP_001136076.1:n.125-2491_125-2489del
XM_005271008.1:c.362+42_362+44del	XP_005271065.1:n.362+42_362+44del
NM_001363695.1:c.362+42_362+44del	NP_001350624.1:n.362+42_362+44del
NM_000310.4:c.362+42_362+44del MANE Select	NP_000301.1:n.362+42_362+44del
NM_001142604.2:c.125-2491_125-2489del	NP_001136076.1:n.125-2491_125-2489del
NM_001363695.2:c.362+42_362+44del	NP_001350624.1:n.362+42_362+44del