Canonical Allele Identifier: CA789638

Gene: PPT1

Linked Data

• dbSNP Id: rs201265025
• ExAC: 1:40546070 C / A
• gnomAD v2: 1-40546070-C-A
• gnomAD v4: 1-40080398-C-A
• MyVariant Identifiers: chr1:g.40546070C>A (hg19) ; chr1:g.40080398C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080398C>A , CM000663.2:g.40080398C>A	GRCh38
NC_000001.10:g.40546070C>A , CM000663.1:g.40546070C>A	GRCh37
NC_000001.9:g.40318657C>A	NCBI36
NG_009192.1:g.22073G>T , LRG_690:g.22073G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.623G>T	ENSP00000394863.4:p.Arg208Leu
ENST00000439754.6:c.626G>T	ENSP00000403207.2:p.Arg209Leu
ENST00000449045.7:c.317G>T	ENSP00000392293.2:p.Arg106Leu
ENST00000527311.7:c.395G>T	ENSP00000436695.3:p.Arg132Leu
ENST00000530076.6:c.-32G>T	ENSP00000434007.1:n.-32G>T
ENST00000530704.6:c.*249G>T	ENSP00000431655.1:n.*249G>T
ENST00000641083.1:c.604G>T
ENST00000641236.1:n.863G>T
ENST00000641319.1:c.626G>T	ENSP00000493128.1:p.Arg209Leu
ENST00000641381.1:c.149-3485G>T
ENST00000641471.1:c.713G>T	ENSP00000493146.1:p.Arg238Leu
ENST00000641691.1:c.*478G>T	ENSP00000492910.1:n.*478G>T
ENST00000641924.1:c.*55G>T	ENSP00000493063.1:n.*55G>T
ENST00000642050.2:c.626G>T MANE Select	ENSP00000493153.1:p.Arg209Leu
ENST00000372779.8:c.713G>T	ENSP00000361865.4:p.Arg238Leu
ENST00000433473.7:c.626G>T	ENSP00000394863.3:p.Arg209Leu
ENST00000439754.5:c.311G>T	ENSP00000403207.1:p.Arg104Leu
ENST00000449045.6:c.317G>T	ENSP00000392293.2:p.Arg106Leu
ENST00000527311.6:c.401G>T	ENSP00000436695.2:p.Arg134Leu
ENST00000529905.5:c.626G>T	ENSP00000432053.1:p.Arg209Leu
ENST00000530076.5:c.-32G>T	ENSP00000434007.1:n.-32G>T
ENST00000530704.5:c.*249G>T	ENSP00000431655.1:n.*249G>T
NM_000310.3:c.626G>T , LRG_690t1:c.626G>T	NP_000301.1:p.Arg209Leu
NM_001142604.1:c.317G>T	NP_001136076.1:p.Arg106Leu
XM_005271008.1:c.626G>T	XP_005271065.1:p.Arg209Leu
NM_001363695.1:c.626G>T	NP_001350624.1:p.Arg209Leu
NM_000310.4:c.626G>T MANE Select	NP_000301.1:p.Arg209Leu
NM_001142604.2:c.317G>T	NP_001136076.1:p.Arg106Leu
NM_001363695.2:c.626G>T	NP_001350624.1:p.Arg209Leu