Canonical Allele Identifier: CA339846635

Gene: PPT1

Linked Data

• ClinVar Variation Id: 2155769
• ClinVar RCV Id: RCV003090752
• gnomAD v4: 1-40078582-A-G
• MyVariant Identifiers: chr1:g.40544254A>G (hg19) ; chr1:g.40078582A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078582A>G , CM000663.2:g.40078582A>G	GRCh38
NC_000001.10:g.40544254A>G , CM000663.1:g.40544254A>G	GRCh37
NC_000001.9:g.40316841A>G	NCBI36
NG_009192.1:g.23889T>C , LRG_690:g.23889T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.701T>C	ENSP00000394863.4:p.Ile234Thr
ENST00000439754.6:c.704T>C	ENSP00000403207.2:p.Ile235Thr
ENST00000449045.7:c.395T>C	ENSP00000392293.2:p.Ile132Thr
ENST00000527311.7:c.473T>C	ENSP00000436695.3:p.Ile158Thr
ENST00000530076.6:c.47T>C	ENSP00000434007.1:p.Ile16Thr
ENST00000530704.6:c.*327T>C	ENSP00000431655.1:n.*327T>C
ENST00000641083.1:c.682T>C
ENST00000641236.1:n.941T>C
ENST00000641319.1:c.704T>C	ENSP00000493128.1:p.Ile235Thr
ENST00000641381.1:c.149-1669T>C
ENST00000641471.1:c.791T>C	ENSP00000493146.1:p.Ile264Thr
ENST00000641691.1:c.*556T>C	ENSP00000492910.1:n.*556T>C
ENST00000641924.1:c.*133T>C	ENSP00000493063.1:n.*133T>C
ENST00000642050.2:c.704T>C MANE Select	ENSP00000493153.1:p.Ile235Thr
ENST00000372775.2:n.101T>C
ENST00000372779.8:c.791T>C	ENSP00000361865.4:p.Ile264Thr
ENST00000433473.7:c.704T>C	ENSP00000394863.3:p.Ile235Thr
ENST00000439754.5:c.389T>C	ENSP00000403207.1:p.Ile130Thr
ENST00000449045.6:c.395T>C	ENSP00000392293.2:p.Ile132Thr
ENST00000527311.6:c.479T>C	ENSP00000436695.2:p.Ile160Thr
ENST00000529905.5:c.704T>C	ENSP00000432053.1:p.Ile235Thr
ENST00000530076.5:c.47T>C	ENSP00000434007.1:p.Ile16Thr
ENST00000530704.5:c.*327T>C	ENSP00000431655.1:n.*327T>C
NM_000310.3:c.704T>C , LRG_690t1:c.704T>C	NP_000301.1:p.Ile235Thr
NM_001142604.1:c.395T>C	NP_001136076.1:p.Ile132Thr
XM_005271008.1:c.704T>C	XP_005271065.1:p.Ile235Thr
NM_001363695.1:c.704T>C	NP_001350624.1:p.Ile235Thr
NM_000310.4:c.704T>C MANE Select	NP_000301.1:p.Ile235Thr
NM_001142604.2:c.395T>C	NP_001136076.1:p.Ile132Thr
NM_001363695.2:c.704T>C	NP_001350624.1:p.Ile235Thr