Canonical Allele Identifier: CA417322228

Gene: PPT1

Linked Data

• gnomAD v4: 1-40078623-G-A
• MyVariant Identifiers: chr1:g.40544295G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078623G>A , CM000663.2:g.40078623G>A	GRCh38
NC_000001.10:g.40544295G>A , CM000663.1:g.40544295G>A	GRCh37
NC_000001.9:g.40316882G>A	NCBI36
NG_009192.1:g.23848C>T , LRG_690:g.23848C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.660C>T	ENSP00000394863.4:p.Ala220=
ENST00000439754.6:c.663C>T	ENSP00000403207.2:p.Ala221=
ENST00000449045.7:c.354C>T	ENSP00000392293.2:p.Ala118=
ENST00000527311.7:c.432C>T	ENSP00000436695.3:p.Ala144=
ENST00000530076.6:c.6C>T	ENSP00000434007.1:p.Ala2=
ENST00000530704.6:c.*286C>T	ENSP00000431655.1:n.*286C>T
ENST00000641083.1:c.641C>T
ENST00000641236.1:n.900C>T
ENST00000641319.1:c.663C>T	ENSP00000493128.1:p.Ala221=
ENST00000641381.1:c.149-1710C>T
ENST00000641471.1:c.750C>T	ENSP00000493146.1:p.Ala250=
ENST00000641691.1:c.*515C>T	ENSP00000492910.1:n.*515C>T
ENST00000641924.1:c.*92C>T	ENSP00000493063.1:n.*92C>T
ENST00000642050.2:c.663C>T MANE Select	ENSP00000493153.1:p.Ala221=
ENST00000372775.2:n.60C>T
ENST00000372779.8:c.750C>T	ENSP00000361865.4:p.Ala250=
ENST00000433473.7:c.663C>T	ENSP00000394863.3:p.Ala221=
ENST00000439754.5:c.348C>T	ENSP00000403207.1:p.Ala116=
ENST00000449045.6:c.354C>T	ENSP00000392293.2:p.Ala118=
ENST00000527311.6:c.438C>T	ENSP00000436695.2:p.Ala146=
ENST00000529905.5:c.663C>T	ENSP00000432053.1:p.Ala221=
ENST00000530076.5:c.6C>T	ENSP00000434007.1:p.Ala2=
ENST00000530704.5:c.*286C>T	ENSP00000431655.1:n.*286C>T
NM_000310.3:c.663C>T , LRG_690t1:c.663C>T	NP_000301.1:p.Ala221=
NM_001142604.1:c.354C>T	NP_001136076.1:p.Ala118=
XM_005271008.1:c.663C>T	XP_005271065.1:p.Ala221=
NM_001363695.1:c.663C>T	NP_001350624.1:p.Ala221=
NM_000310.4:c.663C>T MANE Select	NP_000301.1:p.Ala221=
NM_001142604.2:c.354C>T	NP_001136076.1:p.Ala118=
NM_001363695.2:c.663C>T	NP_001350624.1:p.Ala221=