Canonical Allele Identifier: CA789714

Gene: PPT1

Linked Data

• ClinVar Variation Id: 1589023
• ClinVar RCV Id: RCV002098651
• dbSNP Id: rs535946203
• ExAC: 1:40556990 G / A
• gnomAD v2: 1-40556990-G-A
• gnomAD v3: 1-40091318-G-A
• gnomAD v4: 1-40091318-G-A
• MyVariant Identifiers: chr1:g.40556990G>A (hg19) ; chr1:g.40091318G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091318G>A , CM000663.2:g.40091318G>A	GRCh38
NC_000001.10:g.40556990G>A , CM000663.1:g.40556990G>A	GRCh37
NC_000001.9:g.40329577G>A	NCBI36
NG_009192.1:g.11153C>T , LRG_690:g.11153C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*269+11C>T	ENSP00000361865.5:n.*269+11C>T
ENST00000433473.8:c.430+11C>T	ENSP00000394863.4:n.430+11C>T
ENST00000439754.6:c.433+11C>T	ENSP00000403207.2:n.433+11C>T
ENST00000449045.7:c.125-1806C>T	ENSP00000392293.2:n.125-1806C>T
ENST00000526547.2:c.713+11C>T
ENST00000527311.7:c.305+11C>T	ENSP00000436695.3:n.305+11C>T
ENST00000530704.6:c.433+11C>T	ENSP00000431655.1:n.433+11C>T
ENST00000641083.1:c.411+11C>T
ENST00000641236.1:n.670+11C>T
ENST00000641319.1:c.433+11C>T	ENSP00000493128.1:n.433+11C>T
ENST00000641381.1:c.45+11C>T
ENST00000641471.1:c.520+11C>T	ENSP00000493146.1:n.520+11C>T
ENST00000641548.1:c.*285+11C>T	ENSP00000492984.1:n.*285+11C>T
ENST00000641691.1:c.*285+11C>T	ENSP00000492910.1:n.*285+11C>T
ENST00000641924.1:c.124+5797C>T	ENSP00000493063.1:n.124+5797C>T
ENST00000642050.2:c.433+11C>T MANE Select	ENSP00000493153.1:n.433+11C>T
ENST00000372779.8:c.520+11C>T	ENSP00000361865.4:n.520+11C>T
ENST00000433473.7:c.433+11C>T	ENSP00000394863.3:n.433+11C>T
ENST00000439754.5:c.118+11C>T	ENSP00000403207.1:n.118+11C>T
ENST00000449045.6:c.125-1806C>T	ENSP00000392293.2:n.125-1806C>T
ENST00000526547.1:c.283+11C>T	ENSP00000436481.1:n.283+11C>T
ENST00000527311.6:c.208+11C>T	ENSP00000436695.2:n.208+11C>T
ENST00000529905.5:c.433+11C>T	ENSP00000432053.1:n.433+11C>T
ENST00000530704.5:c.433+11C>T	ENSP00000431655.1:n.433+11C>T
NM_000310.3:c.433+11C>T , LRG_690t1:c.433+11C>T	NP_000301.1:n.433+11C>T
NM_001142604.1:c.125-1806C>T	NP_001136076.1:n.125-1806C>T
XM_005271008.1:c.433+11C>T	XP_005271065.1:n.433+11C>T
NM_001363695.1:c.433+11C>T	NP_001350624.1:n.433+11C>T
NM_000310.4:c.433+11C>T MANE Select	NP_000301.1:n.433+11C>T
NM_001142604.2:c.125-1806C>T	NP_001136076.1:n.125-1806C>T
NM_001363695.2:c.433+11C>T	NP_001350624.1:n.433+11C>T