Canonical Allele Identifier: CA21007591

Gene: PPT1

Linked Data

• ClinVar Variation Id: 1576219
• ClinVar RCV Id: RCV002085271
• dbSNP Id: rs375858133
• gnomAD v3: 1-40080484-G-A
• gnomAD v4: 1-40080484-G-A
• MyVariant Identifiers: chr1:g.40546156G>A (hg19) ; chr1:g.40080484G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080484G>A , CM000663.2:g.40080484G>A	GRCh38
NC_000001.10:g.40546156G>A , CM000663.1:g.40546156G>A	GRCh37
NC_000001.9:g.40318743G>A	NCBI36
NG_009192.1:g.21987C>T , LRG_690:g.21987C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*376C>T	ENSP00000361865.5:n.*376C>T
ENST00000433473.8:c.537C>T	ENSP00000394863.4:p.Leu179=
ENST00000439754.6:c.540C>T	ENSP00000403207.2:p.Leu180=
ENST00000449045.7:c.231C>T	ENSP00000392293.2:p.Leu77=
ENST00000527311.7:c.309C>T	ENSP00000436695.3:p.Leu103=
ENST00000530076.6:c.-118C>T	ENSP00000434007.1:n.-118C>T
ENST00000530704.6:c.*163C>T	ENSP00000431655.1:n.*163C>T
ENST00000641083.1:c.518C>T
ENST00000641236.1:n.777C>T
ENST00000641319.1:c.540C>T	ENSP00000493128.1:p.Leu180=
ENST00000641381.1:c.149-3571C>T
ENST00000641471.1:c.627C>T	ENSP00000493146.1:p.Leu209=
ENST00000641691.1:c.*392C>T	ENSP00000492910.1:n.*392C>T
ENST00000641924.1:c.128C>T	ENSP00000493063.1:p.Ser43Leu
ENST00000642050.2:c.540C>T MANE Select	ENSP00000493153.1:p.Leu180=
ENST00000372779.8:c.627C>T	ENSP00000361865.4:p.Leu209=
ENST00000433473.7:c.540C>T	ENSP00000394863.3:p.Leu180=
ENST00000439754.5:c.225C>T	ENSP00000403207.1:p.Leu75=
ENST00000449045.6:c.231C>T	ENSP00000392293.2:p.Leu77=
ENST00000527311.6:c.315C>T	ENSP00000436695.2:p.Leu105=
ENST00000529905.5:c.540C>T	ENSP00000432053.1:p.Leu180=
ENST00000530076.5:c.-118C>T	ENSP00000434007.1:n.-118C>T
ENST00000530704.5:c.*163C>T	ENSP00000431655.1:n.*163C>T
NM_000310.3:c.540C>T , LRG_690t1:c.540C>T	NP_000301.1:p.Leu180=
NM_001142604.1:c.231C>T	NP_001136076.1:p.Leu77=
XM_005271008.1:c.540C>T	XP_005271065.1:p.Leu180=
NM_001363695.1:c.540C>T	NP_001350624.1:p.Leu180=
NM_000310.4:c.540C>T MANE Select	NP_000301.1:p.Leu180=
NM_001142604.2:c.231C>T	NP_001136076.1:p.Leu77=
NM_001363695.2:c.540C>T	NP_001350624.1:p.Leu180=