Canonical Allele Identifier: CA417322284

Gene: PPT1

Linked Data

• ClinVar Variation Id: 1131527
• ClinVar RCV Id: RCV001465462
• dbSNP Id: rs1408279040
• gnomAD v2: 1-40546147-G-A
• gnomAD v4: 1-40080475-G-A
• COSMIC: COSM909380
• MyVariant Identifiers: chr1:g.40546147G>A (hg19) ; chr1:g.40080475G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080475G>A , CM000663.2:g.40080475G>A	GRCh38
NC_000001.10:g.40546147G>A , CM000663.1:g.40546147G>A	GRCh37
NC_000001.9:g.40318734G>A	NCBI36
NG_009192.1:g.21996C>T , LRG_690:g.21996C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*385C>T	ENSP00000361865.5:n.*385C>T
ENST00000433473.8:c.546C>T	ENSP00000394863.4:p.Ala182=
ENST00000439754.6:c.549C>T	ENSP00000403207.2:p.Ala183=
ENST00000449045.7:c.240C>T	ENSP00000392293.2:p.Ala80=
ENST00000527311.7:c.318C>T	ENSP00000436695.3:p.Ala106=
ENST00000530076.6:c.-109C>T	ENSP00000434007.1:n.-109C>T
ENST00000530704.6:c.*172C>T	ENSP00000431655.1:n.*172C>T
ENST00000641083.1:c.527C>T
ENST00000641236.1:n.786C>T
ENST00000641319.1:c.549C>T	ENSP00000493128.1:p.Ala183=
ENST00000641381.1:c.149-3562C>T
ENST00000641471.1:c.636C>T	ENSP00000493146.1:p.Ala212=
ENST00000641691.1:c.*401C>T	ENSP00000492910.1:n.*401C>T
ENST00000641924.1:c.137C>T	ENSP00000493063.1:p.Pro46Leu
ENST00000642050.2:c.549C>T MANE Select	ENSP00000493153.1:p.Ala183=
ENST00000372779.8:c.636C>T	ENSP00000361865.4:p.Ala212=
ENST00000433473.7:c.549C>T	ENSP00000394863.3:p.Ala183=
ENST00000439754.5:c.234C>T	ENSP00000403207.1:p.Ala78=
ENST00000449045.6:c.240C>T	ENSP00000392293.2:p.Ala80=
ENST00000527311.6:c.324C>T	ENSP00000436695.2:p.Ala108=
ENST00000529905.5:c.549C>T	ENSP00000432053.1:p.Ala183=
ENST00000530076.5:c.-109C>T	ENSP00000434007.1:n.-109C>T
ENST00000530704.5:c.*172C>T	ENSP00000431655.1:n.*172C>T
NM_000310.3:c.549C>T , LRG_690t1:c.549C>T	NP_000301.1:p.Ala183=
NM_001142604.1:c.240C>T	NP_001136076.1:p.Ala80=
XM_005271008.1:c.549C>T	XP_005271065.1:p.Ala183=
NM_001363695.1:c.549C>T	NP_001350624.1:p.Ala183=
NM_000310.4:c.549C>T MANE Select	NP_000301.1:p.Ala183=
NM_001142604.2:c.240C>T	NP_001136076.1:p.Ala80=
NM_001363695.2:c.549C>T	NP_001350624.1:p.Ala183=