Canonical Allele Identifier: CA735686653

Gene: PPT1

Linked Data

• dbSNP Id: rs1384014147
• gnomAD v3: 1-40078956-AAC-A
• gnomAD v4: 1-40078956-AAC-A
• MyVariant Identifiers: chr1:g.40544629_40544630del (hg19) ; chr1:g.40078957_40078958del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078960_40078961del , CM000663.2:g.40078960_40078961del	GRCh38
NC_000001.10:g.40544632_40544633del , CM000663.1:g.40544632_40544633del	GRCh37
NC_000001.9:g.40317219_40317220del	NCBI36
NG_009192.1:g.23513_23514del , LRG_690:g.23513_23514del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.625-300_625-299del	ENSP00000394863.4:n.625-300_625-299del
ENST00000439754.6:c.628-300_628-299del	ENSP00000403207.2:n.628-300_628-299del
ENST00000449045.7:c.319-300_319-299del	ENSP00000392293.2:n.319-300_319-299del
ENST00000527311.7:c.397-300_397-299del	ENSP00000436695.3:n.397-300_397-299del
ENST00000530076.6:c.-30-300_-30-299del	ENSP00000434007.1:n.-30-300_-30-299del
ENST00000530704.6:c.*251-300_*251-299del	ENSP00000431655.1:n.*251-300_*251-299del
ENST00000641083.1:c.606-300_606-299del
ENST00000641236.1:n.865-300_865-299del
ENST00000641319.1:c.628-300_628-299del	ENSP00000493128.1:n.628-300_628-299del
ENST00000641381.1:c.149-2045_149-2044del
ENST00000641471.1:c.715-300_715-299del	ENSP00000493146.1:n.715-300_715-299del
ENST00000641691.1:c.*480-300_*480-299del	ENSP00000492910.1:n.*480-300_*480-299del
ENST00000641924.1:c.*57-300_*57-299del	ENSP00000493063.1:n.*57-300_*57-299del
ENST00000642050.2:c.628-300_628-299del MANE Select	ENSP00000493153.1:n.628-300_628-299del
ENST00000372779.8:c.715-300_715-299del	ENSP00000361865.4:n.715-300_715-299del
ENST00000433473.7:c.628-300_628-299del	ENSP00000394863.3:n.628-300_628-299del
ENST00000439754.5:c.313-300_313-299del	ENSP00000403207.1:n.313-300_313-299del
ENST00000449045.6:c.319-300_319-299del	ENSP00000392293.2:n.319-300_319-299del
ENST00000527311.6:c.403-300_403-299del	ENSP00000436695.2:n.403-300_403-299del
ENST00000529905.5:c.628-300_628-299del	ENSP00000432053.1:n.628-300_628-299del
ENST00000530076.5:c.-30-300_-30-299del	ENSP00000434007.1:n.-30-300_-30-299del
ENST00000530704.5:c.*251-300_*251-299del	ENSP00000431655.1:n.*251-300_*251-299del
NM_000310.3:c.628-300_628-299del , LRG_690t1:c.628-300_628-299del	NP_000301.1:n.628-300_628-299del
NM_001142604.1:c.319-300_319-299del	NP_001136076.1:n.319-300_319-299del
XM_005271008.1:c.628-300_628-299del	XP_005271065.1:n.628-300_628-299del
NM_001363695.1:c.628-300_628-299del	NP_001350624.1:n.628-300_628-299del
NM_000310.4:c.628-300_628-299del MANE Select	NP_000301.1:n.628-300_628-299del
NM_001142604.2:c.319-300_319-299del	NP_001136076.1:n.319-300_319-299del
NM_001363695.2:c.628-300_628-299del	NP_001350624.1:n.628-300_628-299del