Canonical Allele Identifier: CA522421525

Gene: PPT1

Linked Data

• dbSNP Id: rs1370715683
• gnomAD v2: 1-40557962-G-GT
• gnomAD v3: 1-40092290-G-GT
• gnomAD v4: 1-40092290-G-GT
• MyVariant Identifiers: chr1:g.40557962_40557963insT (hg19) ; chr1:g.40092290_40092291insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092291dup , CM000663.2:g.40092291dup	GRCh38
NC_000001.10:g.40557963dup , CM000663.1:g.40557963dup	GRCh37
NC_000001.9:g.40330550dup	NCBI36
NG_009192.1:g.10180dup , LRG_690:g.10180dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*70+107dup	ENSP00000361865.5:n.*70+107dup
ENST00000433473.8:c.231+107dup	ENSP00000394863.4:n.231+107dup
ENST00000439754.6:c.234+107dup	ENSP00000403207.2:n.234+107dup
ENST00000449045.7:c.125-2779dup	ENSP00000392293.2:n.125-2779dup
ENST00000526547.2:c.514+107dup
ENST00000527311.7:c.234+107dup	ENSP00000436695.3:n.234+107dup
ENST00000530704.6:c.234+107dup	ENSP00000431655.1:n.234+107dup
ENST00000641083.1:c.212+107dup
ENST00000641236.1:n.353dup
ENST00000641319.1:c.234+107dup	ENSP00000493128.1:n.234+107dup
ENST00000641471.1:c.321+107dup	ENSP00000493146.1:n.321+107dup
ENST00000641548.1:c.*86+107dup	ENSP00000492984.1:n.*86+107dup
ENST00000641691.1:c.*86+107dup	ENSP00000492910.1:n.*86+107dup
ENST00000641924.1:c.124+4824dup	ENSP00000493063.1:n.124+4824dup
ENST00000642050.2:c.234+107dup MANE Select	ENSP00000493153.1:n.234+107dup
ENST00000372779.8:c.321+107dup	ENSP00000361865.4:n.321+107dup
ENST00000433473.7:c.234+107dup	ENSP00000394863.3:n.234+107dup
ENST00000449045.6:c.125-2779dup	ENSP00000392293.2:n.125-2779dup
ENST00000526547.1:c.84+107dup	ENSP00000436481.1:n.84+107dup
ENST00000527311.6:c.125-234dup	ENSP00000436695.2:n.125-234dup
ENST00000529905.5:c.234+107dup	ENSP00000432053.1:n.234+107dup
ENST00000530704.5:c.234+107dup	ENSP00000431655.1:n.234+107dup
NM_000310.3:c.234+107dup , LRG_690t1:c.234+107dup	NP_000301.1:n.234+107dup
NM_001142604.1:c.125-2779dup	NP_001136076.1:n.125-2779dup
XM_005271008.1:c.234+107dup	XP_005271065.1:n.234+107dup
NM_001363695.1:c.234+107dup	NP_001350624.1:n.234+107dup
NM_000310.4:c.234+107dup MANE Select	NP_000301.1:n.234+107dup
NM_001142604.2:c.125-2779dup	NP_001136076.1:n.125-2779dup
NM_001363695.2:c.234+107dup	NP_001350624.1:n.234+107dup