Canonical Allele Identifier: CA735686470

Gene: PPT1

Linked Data

• dbSNP Id: rs1421111750
• gnomAD v3: 1-40078669-GGCCA-G
• gnomAD v4: 1-40078669-GGCCA-G
• MyVariant Identifiers: chr1:g.40544342_40544345del (hg19) ; chr1:g.40078670_40078673del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078672_40078675del , CM000663.2:g.40078672_40078675del	GRCh38
NC_000001.10:g.40544344_40544347del , CM000663.1:g.40544344_40544347del	GRCh37
NC_000001.9:g.40316931_40316934del	NCBI36
NG_009192.1:g.23798_23801del , LRG_690:g.23798_23801del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.625-15_625-12del	ENSP00000394863.4:n.625-15_625-12del
ENST00000439754.6:c.628-15_628-12del	ENSP00000403207.2:n.628-15_628-12del
ENST00000449045.7:c.319-15_319-12del	ENSP00000392293.2:n.319-15_319-12del
ENST00000527311.7:c.397-15_397-12del	ENSP00000436695.3:n.397-15_397-12del
ENST00000530076.6:c.-30-15_-30-12del	ENSP00000434007.1:n.-30-15_-30-12del
ENST00000530704.6:c.*251-15_*251-12del	ENSP00000431655.1:n.*251-15_*251-12del
ENST00000641083.1:c.606-15_606-12del
ENST00000641236.1:n.865-15_865-12del
ENST00000641319.1:c.628-15_628-12del	ENSP00000493128.1:n.628-15_628-12del
ENST00000641381.1:c.149-1760_149-1757del
ENST00000641471.1:c.715-15_715-12del	ENSP00000493146.1:n.715-15_715-12del
ENST00000641691.1:c.*480-15_*480-12del	ENSP00000492910.1:n.*480-15_*480-12del
ENST00000641924.1:c.*57-15_*57-12del	ENSP00000493063.1:n.*57-15_*57-12del
ENST00000642050.2:c.628-15_628-12del MANE Select	ENSP00000493153.1:n.628-15_628-12del
ENST00000372775.2:n.25-15_25-12del
ENST00000372779.8:c.715-15_715-12del	ENSP00000361865.4:n.715-15_715-12del
ENST00000433473.7:c.628-15_628-12del	ENSP00000394863.3:n.628-15_628-12del
ENST00000439754.5:c.313-15_313-12del	ENSP00000403207.1:n.313-15_313-12del
ENST00000449045.6:c.319-15_319-12del	ENSP00000392293.2:n.319-15_319-12del
ENST00000527311.6:c.403-15_403-12del	ENSP00000436695.2:n.403-15_403-12del
ENST00000529905.5:c.628-15_628-12del	ENSP00000432053.1:n.628-15_628-12del
ENST00000530076.5:c.-30-15_-30-12del	ENSP00000434007.1:n.-30-15_-30-12del
ENST00000530704.5:c.*251-15_*251-12del	ENSP00000431655.1:n.*251-15_*251-12del
NM_000310.3:c.628-15_628-12del , LRG_690t1:c.628-15_628-12del	NP_000301.1:n.628-15_628-12del
NM_001142604.1:c.319-15_319-12del	NP_001136076.1:n.319-15_319-12del
XM_005271008.1:c.628-15_628-12del	XP_005271065.1:n.628-15_628-12del
NM_001363695.1:c.628-15_628-12del	NP_001350624.1:n.628-15_628-12del
NM_000310.4:c.628-15_628-12del MANE Select	NP_000301.1:n.628-15_628-12del
NM_001142604.2:c.319-15_319-12del	NP_001136076.1:n.319-15_319-12del
NM_001363695.2:c.628-15_628-12del	NP_001350624.1:n.628-15_628-12del