Canonical Allele Identifier: CA339845476

Gene: PPT1

Linked Data

• ClinVar Variation Id: 991803
• ClinVar RCV Id: RCV001280075
• dbSNP Id: rs1304668396
• gnomAD v2: 1-40539777-A-G
• gnomAD v4: 1-40074105-A-G
• MyVariant Identifiers: chr1:g.40539777A>G (hg19) ; chr1:g.40074105A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074105A>G , CM000663.2:g.40074105A>G	GRCh38
NC_000001.10:g.40539777A>G , CM000663.1:g.40539777A>G	GRCh37
NC_000001.9:g.40312364A>G	NCBI36
NG_009192.1:g.28366T>C , LRG_690:g.28366T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.874T>C	ENSP00000394863.4:p.Ser292Pro
ENST00000439754.6:c.805T>C	ENSP00000403207.2:p.Ser269Pro
ENST00000449045.7:c.568T>C	ENSP00000392293.2:p.Ser190Pro
ENST00000530076.6:c.220T>C	ENSP00000434007.1:p.Ser74Pro
ENST00000530704.6:c.*500T>C	ENSP00000431655.1:n.*500T>C
ENST00000641083.1:c.967T>C
ENST00000641236.1:n.1114T>C
ENST00000641319.1:c.*87T>C	ENSP00000493128.1:n.*87T>C
ENST00000641381.1:c.299T>C
ENST00000641471.1:c.964T>C	ENSP00000493146.1:p.Ser322Pro
ENST00000641691.1:c.*729T>C	ENSP00000492910.1:n.*729T>C
ENST00000641924.1:c.*306T>C	ENSP00000493063.1:n.*306T>C
ENST00000642050.2:c.877T>C MANE Select	ENSP00000493153.1:p.Ser293Pro
ENST00000372775.2:n.274T>C
ENST00000433473.7:c.877T>C	ENSP00000394863.3:p.Ser293Pro
ENST00000439754.5:c.490T>C	ENSP00000403207.1:p.Ser164Pro
ENST00000449045.6:c.568T>C	ENSP00000392293.2:p.Ser190Pro
ENST00000529905.5:c.877T>C	ENSP00000432053.1:p.Ser293Pro
ENST00000530076.5:c.220T>C	ENSP00000434007.1:p.Ser74Pro
ENST00000530704.5:c.*500T>C	ENSP00000431655.1:n.*500T>C
NM_000310.3:c.877T>C , LRG_690t1:c.877T>C	NP_000301.1:p.Ser293Pro
NM_001142604.1:c.568T>C	NP_001136076.1:p.Ser190Pro
XM_005271008.1:c.805T>C	XP_005271065.1:p.Ser269Pro
NM_001363695.1:c.805T>C	NP_001350624.1:p.Ser269Pro
NM_000310.4:c.877T>C MANE Select	NP_000301.1:p.Ser293Pro
NM_001142604.2:c.568T>C	NP_001136076.1:p.Ser190Pro
NM_001363695.2:c.805T>C	NP_001350624.1:p.Ser269Pro