Canonical Allele Identifier: CA263523

Gene: PPT1

Linked Data

• ClinVar Variation Id: 56203
• ClinVar RCV Id: RCV000049614
• dbSNP Id: rs386833654
• MyVariant Identifiers: chr1:g.40546152G>A (hg19) ; chr1:g.40080480G>A (hg38)
• PubMed: PMID:21990111

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080480G>A , CM000663.2:g.40080480G>A	GRCh38
NC_000001.10:g.40546152G>A , CM000663.1:g.40546152G>A	GRCh37
NC_000001.9:g.40318739G>A	NCBI36
NG_009192.1:g.21991C>T , LRG_690:g.21991C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*380C>T	ENSP00000361865.5:n.*380C>T
ENST00000433473.8:c.541C>T	ENSP00000394863.4:p.Gln181Ter
ENST00000439754.6:c.544C>T	ENSP00000403207.2:p.Gln182Ter
ENST00000449045.7:c.235C>T	ENSP00000392293.2:p.Gln79Ter
ENST00000527311.7:c.313C>T	ENSP00000436695.3:p.Gln105Ter
ENST00000530076.6:c.-114C>T	ENSP00000434007.1:n.-114C>T
ENST00000530704.6:c.*167C>T	ENSP00000431655.1:n.*167C>T
ENST00000641083.1:c.522C>T
ENST00000641236.1:n.781C>T
ENST00000641319.1:c.544C>T	ENSP00000493128.1:p.Gln182Ter
ENST00000641381.1:c.149-3567C>T
ENST00000641471.1:c.631C>T	ENSP00000493146.1:p.Gln211Ter
ENST00000641691.1:c.*396C>T	ENSP00000492910.1:n.*396C>T
ENST00000641924.1:c.132C>T	ENSP00000493063.1:p.Cys44=
ENST00000642050.2:c.544C>T MANE Select	ENSP00000493153.1:p.Gln182Ter
ENST00000372779.8:c.631C>T	ENSP00000361865.4:p.Gln211Ter
ENST00000433473.7:c.544C>T	ENSP00000394863.3:p.Gln182Ter
ENST00000439754.5:c.229C>T	ENSP00000403207.1:p.Gln77Ter
ENST00000449045.6:c.235C>T	ENSP00000392293.2:p.Gln79Ter
ENST00000527311.6:c.319C>T	ENSP00000436695.2:p.Gln107Ter
ENST00000529905.5:c.544C>T	ENSP00000432053.1:p.Gln182Ter
ENST00000530076.5:c.-114C>T	ENSP00000434007.1:n.-114C>T
ENST00000530704.5:c.*167C>T	ENSP00000431655.1:n.*167C>T
NM_000310.3:c.544C>T , LRG_690t1:c.544C>T	NP_000301.1:p.Gln182Ter
NM_001142604.1:c.235C>T	NP_001136076.1:p.Gln79Ter
XM_005271008.1:c.544C>T	XP_005271065.1:p.Gln182Ter
NM_001363695.1:c.544C>T	NP_001350624.1:p.Gln182Ter
NM_000310.4:c.544C>T MANE Select	NP_000301.1:p.Gln182Ter
NM_001142604.2:c.235C>T	NP_001136076.1:p.Gln79Ter
NM_001363695.2:c.544C>T	NP_001350624.1:p.Gln182Ter