Canonical Allele Identifier: CA417322259

Gene: PPT1

Linked Data

• dbSNP Id: rs1648867914
• gnomAD v3: 1-40080418-C-T
• gnomAD v4: 1-40080418-C-T
• MyVariant Identifiers: chr1:g.40546090C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080418C>T , CM000663.2:g.40080418C>T	GRCh38
NC_000001.10:g.40546090C>T , CM000663.1:g.40546090C>T	GRCh37
NC_000001.9:g.40318677C>T	NCBI36
NG_009192.1:g.22053G>A , LRG_690:g.22053G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.603G>A	ENSP00000394863.4:p.Leu201=
ENST00000439754.6:c.606G>A	ENSP00000403207.2:p.Leu202=
ENST00000449045.7:c.297G>A	ENSP00000392293.2:p.Leu99=
ENST00000527311.7:c.375G>A	ENSP00000436695.3:p.Leu125=
ENST00000530076.6:c.-52G>A	ENSP00000434007.1:n.-52G>A
ENST00000530704.6:c.*229G>A	ENSP00000431655.1:n.*229G>A
ENST00000641083.1:c.584G>A
ENST00000641236.1:n.843G>A
ENST00000641319.1:c.606G>A	ENSP00000493128.1:p.Leu202=
ENST00000641381.1:c.149-3505G>A
ENST00000641471.1:c.693G>A	ENSP00000493146.1:p.Leu231=
ENST00000641691.1:c.*458G>A	ENSP00000492910.1:n.*458G>A
ENST00000641924.1:c.*35G>A	ENSP00000493063.1:n.*35G>A
ENST00000642050.2:c.606G>A MANE Select	ENSP00000493153.1:p.Leu202=
ENST00000372779.8:c.693G>A	ENSP00000361865.4:p.Leu231=
ENST00000433473.7:c.606G>A	ENSP00000394863.3:p.Leu202=
ENST00000439754.5:c.291G>A	ENSP00000403207.1:p.Leu97=
ENST00000449045.6:c.297G>A	ENSP00000392293.2:p.Leu99=
ENST00000527311.6:c.381G>A	ENSP00000436695.2:p.Leu127=
ENST00000529905.5:c.606G>A	ENSP00000432053.1:p.Leu202=
ENST00000530076.5:c.-52G>A	ENSP00000434007.1:n.-52G>A
ENST00000530704.5:c.*229G>A	ENSP00000431655.1:n.*229G>A
NM_000310.3:c.606G>A , LRG_690t1:c.606G>A	NP_000301.1:p.Leu202=
NM_001142604.1:c.297G>A	NP_001136076.1:p.Leu99=
XM_005271008.1:c.606G>A	XP_005271065.1:p.Leu202=
NM_001363695.1:c.606G>A	NP_001350624.1:p.Leu202=
NM_000310.4:c.606G>A MANE Select	NP_000301.1:p.Leu202=
NM_001142604.2:c.297G>A	NP_001136076.1:p.Leu99=
NM_001363695.2:c.606G>A	NP_001350624.1:p.Leu202=