Canonical Allele Identifier: CA339847830

Gene: PPT1

Linked Data

• gnomAD v4: 1-40080462-C-T
• MyVariant Identifiers: chr1:g.40546134C>T (hg19) ; chr1:g.40080462C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080462C>T , CM000663.2:g.40080462C>T	GRCh38
NC_000001.10:g.40546134C>T , CM000663.1:g.40546134C>T	GRCh37
NC_000001.9:g.40318721C>T	NCBI36
NG_009192.1:g.22009G>A , LRG_690:g.22009G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*398G>A	ENSP00000361865.5:n.*398G>A
ENST00000433473.8:c.559G>A	ENSP00000394863.4:p.Asp187Asn
ENST00000439754.6:c.562G>A	ENSP00000403207.2:p.Asp188Asn
ENST00000449045.7:c.253G>A	ENSP00000392293.2:p.Asp85Asn
ENST00000527311.7:c.331G>A	ENSP00000436695.3:p.Asp111Asn
ENST00000530076.6:c.-96G>A	ENSP00000434007.1:n.-96G>A
ENST00000530704.6:c.*185G>A	ENSP00000431655.1:n.*185G>A
ENST00000641083.1:c.540G>A
ENST00000641236.1:n.799G>A
ENST00000641319.1:c.562G>A	ENSP00000493128.1:p.Asp188Asn
ENST00000641381.1:c.149-3549G>A
ENST00000641471.1:c.649G>A	ENSP00000493146.1:p.Asp217Asn
ENST00000641691.1:c.*414G>A	ENSP00000492910.1:n.*414G>A
ENST00000641924.1:c.150G>A	ENSP00000493063.1:p.Met50Ile
ENST00000642050.2:c.562G>A MANE Select	ENSP00000493153.1:p.Asp188Asn
ENST00000372779.8:c.649G>A	ENSP00000361865.4:p.Asp217Asn
ENST00000433473.7:c.562G>A	ENSP00000394863.3:p.Asp188Asn
ENST00000439754.5:c.247G>A	ENSP00000403207.1:p.Asp83Asn
ENST00000449045.6:c.253G>A	ENSP00000392293.2:p.Asp85Asn
ENST00000527311.6:c.337G>A	ENSP00000436695.2:p.Asp113Asn
ENST00000529905.5:c.562G>A	ENSP00000432053.1:p.Asp188Asn
ENST00000530076.5:c.-96G>A	ENSP00000434007.1:n.-96G>A
ENST00000530704.5:c.*185G>A	ENSP00000431655.1:n.*185G>A
NM_000310.3:c.562G>A , LRG_690t1:c.562G>A	NP_000301.1:p.Asp188Asn
NM_001142604.1:c.253G>A	NP_001136076.1:p.Asp85Asn
XM_005271008.1:c.562G>A	XP_005271065.1:p.Asp188Asn
NM_001363695.1:c.562G>A	NP_001350624.1:p.Asp188Asn
NM_000310.4:c.562G>A MANE Select	NP_000301.1:p.Asp188Asn
NM_001142604.2:c.253G>A	NP_001136076.1:p.Asp85Asn
NM_001363695.2:c.562G>A	NP_001350624.1:p.Asp188Asn