Canonical Allele Identifier: CA288993

Gene: PPT1

Linked Data

• ClinVar Variation Id: 130022
• ClinVar RCV Id: RCV000118047 ; RCV000306615 ; RCV000675771
• dbSNP Id: rs1800205
• ExAC: 1:40557033 A / G
• gnomAD v2: 1-40557033-A-G
• gnomAD v3: 1-40091361-A-G
• gnomAD v4: 1-40091361-A-G
• MyVariant Identifiers: chr1:g.40557033A>G (hg19) ; chr1:g.40091361A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091361A>G , CM000663.2:g.40091361A>G	GRCh38
NC_000001.10:g.40557033A>G , CM000663.1:g.40557033A>G	GRCh37
NC_000001.9:g.40329620A>G	NCBI36
NG_009192.1:g.11110T>C , LRG_690:g.11110T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*237T>C	ENSP00000361865.5:n.*237T>C
ENST00000433473.8:c.398T>C	ENSP00000394863.4:p.Ile133Thr
ENST00000439754.6:c.401T>C	ENSP00000403207.2:p.Ile134Thr
ENST00000449045.7:c.125-1849T>C	ENSP00000392293.2:n.125-1849T>C
ENST00000526547.2:c.681T>C
ENST00000527311.7:c.273T>C	ENSP00000436695.3:p.Asp91=
ENST00000530704.6:c.401T>C	ENSP00000431655.1:p.Ile134Thr
ENST00000641083.1:c.379T>C
ENST00000641236.1:n.638T>C
ENST00000641319.1:c.401T>C	ENSP00000493128.1:p.Ile134Thr
ENST00000641381.1:c.13T>C
ENST00000641471.1:c.488T>C	ENSP00000493146.1:p.Ile163Thr
ENST00000641548.1:c.*253T>C	ENSP00000492984.1:n.*253T>C
ENST00000641691.1:c.*253T>C	ENSP00000492910.1:n.*253T>C
ENST00000641924.1:c.124+5754T>C	ENSP00000493063.1:n.124+5754T>C
ENST00000642050.2:c.401T>C MANE Select	ENSP00000493153.1:p.Ile134Thr
ENST00000372779.8:c.488T>C	ENSP00000361865.4:p.Ile163Thr
ENST00000433473.7:c.401T>C	ENSP00000394863.3:p.Ile134Thr
ENST00000439754.5:c.86T>C	ENSP00000403207.1:p.Ile29Thr
ENST00000449045.6:c.125-1849T>C	ENSP00000392293.2:n.125-1849T>C
ENST00000526547.1:c.251T>C	ENSP00000436481.1:p.Ile84Thr
ENST00000527311.6:c.176T>C	ENSP00000436695.2:p.Ile59Thr
ENST00000529905.5:c.401T>C	ENSP00000432053.1:p.Ile134Thr
ENST00000530704.5:c.401T>C	ENSP00000431655.1:p.Ile134Thr
NM_000310.3:c.401T>C , LRG_690t1:c.401T>C	NP_000301.1:p.Ile134Thr
NM_001142604.1:c.125-1849T>C	NP_001136076.1:n.125-1849T>C
XM_005271008.1:c.401T>C	XP_005271065.1:p.Ile134Thr
NM_001363695.1:c.401T>C	NP_001350624.1:p.Ile134Thr
NM_000310.4:c.401T>C MANE Select	NP_000301.1:p.Ile134Thr
NM_001142604.2:c.125-1849T>C	NP_001136076.1:n.125-1849T>C
NM_001363695.2:c.401T>C	NP_001350624.1:p.Ile134Thr