Canonical Allele Identifier: CA735686461

Gene: PPT1

Linked Data

• dbSNP Id: rs1458452493
• gnomAD v3: 1-40078660-TGAAA-T
• gnomAD v4: 1-40078660-TGAAA-T
• MyVariant Identifiers: chr1:g.40544333_40544336del (hg19) ; chr1:g.40078661_40078664del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078666_40078669del , CM000663.2:g.40078666_40078669del	GRCh38
NC_000001.10:g.40544338_40544341del , CM000663.1:g.40544338_40544341del	GRCh37
NC_000001.9:g.40316925_40316928del	NCBI36
NG_009192.1:g.23807_23810del , LRG_690:g.23807_23810del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.625-6_625-3del	ENSP00000394863.4:n.625-6_625-3del
ENST00000439754.6:c.628-6_628-3del	ENSP00000403207.2:n.628-6_628-3del
ENST00000449045.7:c.319-6_319-3del	ENSP00000392293.2:n.319-6_319-3del
ENST00000527311.7:c.397-6_397-3del	ENSP00000436695.3:n.397-6_397-3del
ENST00000530076.6:c.-30-6_-30-3del	ENSP00000434007.1:n.-30-6_-30-3del
ENST00000530704.6:c.*251-6_*251-3del	ENSP00000431655.1:n.*251-6_*251-3del
ENST00000641083.1:c.606-6_606-3del
ENST00000641236.1:n.865-6_865-3del
ENST00000641319.1:c.628-6_628-3del	ENSP00000493128.1:n.628-6_628-3del
ENST00000641381.1:c.149-1751_149-1748del
ENST00000641471.1:c.715-6_715-3del	ENSP00000493146.1:n.715-6_715-3del
ENST00000641691.1:c.*480-6_*480-3del	ENSP00000492910.1:n.*480-6_*480-3del
ENST00000641924.1:c.*57-6_*57-3del	ENSP00000493063.1:n.*57-6_*57-3del
ENST00000642050.2:c.628-6_628-3del MANE Select	ENSP00000493153.1:n.628-6_628-3del
ENST00000372775.2:n.25-6_25-3del
ENST00000372779.8:c.715-6_715-3del	ENSP00000361865.4:n.715-6_715-3del
ENST00000433473.7:c.628-6_628-3del	ENSP00000394863.3:n.628-6_628-3del
ENST00000439754.5:c.313-6_313-3del	ENSP00000403207.1:n.313-6_313-3del
ENST00000449045.6:c.319-6_319-3del	ENSP00000392293.2:n.319-6_319-3del
ENST00000527311.6:c.403-6_403-3del	ENSP00000436695.2:n.403-6_403-3del
ENST00000529905.5:c.628-6_628-3del	ENSP00000432053.1:n.628-6_628-3del
ENST00000530076.5:c.-30-6_-30-3del	ENSP00000434007.1:n.-30-6_-30-3del
ENST00000530704.5:c.*251-6_*251-3del	ENSP00000431655.1:n.*251-6_*251-3del
NM_000310.3:c.628-6_628-3del , LRG_690t1:c.628-6_628-3del	NP_000301.1:n.628-6_628-3del
NM_001142604.1:c.319-6_319-3del	NP_001136076.1:n.319-6_319-3del
XM_005271008.1:c.628-6_628-3del	XP_005271065.1:n.628-6_628-3del
NM_001363695.1:c.628-6_628-3del	NP_001350624.1:n.628-6_628-3del
NM_000310.4:c.628-6_628-3del MANE Select	NP_000301.1:n.628-6_628-3del
NM_001142604.2:c.319-6_319-3del	NP_001136076.1:n.319-6_319-3del
NM_001363695.2:c.628-6_628-3del	NP_001350624.1:n.628-6_628-3del