Canonical Allele Identifier: CA417321980

Gene: PPT1

Linked Data

• gnomAD v4: 1-40074112-A-C
• MyVariant Identifiers: chr1:g.40539784A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074112A>C , CM000663.2:g.40074112A>C	GRCh38
NC_000001.10:g.40539784A>C , CM000663.1:g.40539784A>C	GRCh37
NC_000001.9:g.40312371A>C	NCBI36
NG_009192.1:g.28359T>G , LRG_690:g.28359T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.867T>G	ENSP00000394863.4:p.Leu289=
ENST00000439754.6:c.798T>G	ENSP00000403207.2:p.Leu266=
ENST00000449045.7:c.561T>G	ENSP00000392293.2:p.Leu187=
ENST00000530076.6:c.213T>G	ENSP00000434007.1:p.Leu71=
ENST00000530704.6:c.*493T>G	ENSP00000431655.1:n.*493T>G
ENST00000641083.1:c.960T>G
ENST00000641236.1:n.1107T>G
ENST00000641319.1:c.*80T>G	ENSP00000493128.1:n.*80T>G
ENST00000641381.1:c.292T>G
ENST00000641471.1:c.957T>G	ENSP00000493146.1:p.Leu319=
ENST00000641691.1:c.*722T>G	ENSP00000492910.1:n.*722T>G
ENST00000641924.1:c.*299T>G	ENSP00000493063.1:n.*299T>G
ENST00000642050.2:c.870T>G MANE Select	ENSP00000493153.1:p.Leu290=
ENST00000372775.2:n.267T>G
ENST00000433473.7:c.870T>G	ENSP00000394863.3:p.Leu290=
ENST00000439754.5:c.483T>G	ENSP00000403207.1:p.Leu161=
ENST00000449045.6:c.561T>G	ENSP00000392293.2:p.Leu187=
ENST00000529905.5:c.870T>G	ENSP00000432053.1:p.Leu290=
ENST00000530076.5:c.213T>G	ENSP00000434007.1:p.Leu71=
ENST00000530704.5:c.*493T>G	ENSP00000431655.1:n.*493T>G
NM_000310.3:c.870T>G , LRG_690t1:c.870T>G	NP_000301.1:p.Leu290=
NM_001142604.1:c.561T>G	NP_001136076.1:p.Leu187=
XM_005271008.1:c.798T>G	XP_005271065.1:p.Leu266=
NM_001363695.1:c.798T>G	NP_001350624.1:p.Leu266=
NM_000310.4:c.870T>G MANE Select	NP_000301.1:p.Leu290=
NM_001142604.2:c.561T>G	NP_001136076.1:p.Leu187=
NM_001363695.2:c.798T>G	NP_001350624.1:p.Leu266=