Canonical Allele Identifier: CA789736

Gene: PPT1

Linked Data

• ClinVar Variation Id: 1566148
• ClinVar RCV Id: RCV002220237
• dbSNP Id: rs201717598
• ExAC: 1:40557699 T / C
• gnomAD v2: 1-40557699-T-C
• gnomAD v3: 1-40092027-T-C
• gnomAD v4: 1-40092027-T-C
• MyVariant Identifiers: chr1:g.40557699T>C (hg19) ; chr1:g.40092027T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092027T>C , CM000663.2:g.40092027T>C	GRCh38
NC_000001.10:g.40557699T>C , CM000663.1:g.40557699T>C	GRCh37
NC_000001.9:g.40330286T>C	NCBI36
NG_009192.1:g.10444A>G , LRG_690:g.10444A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*198+18A>G	ENSP00000361865.5:n.*198+18A>G
ENST00000433473.8:c.359+18A>G	ENSP00000394863.4:n.359+18A>G
ENST00000439754.6:c.362+18A>G	ENSP00000403207.2:n.362+18A>G
ENST00000449045.7:c.125-2515A>G	ENSP00000392293.2:n.125-2515A>G
ENST00000526547.2:c.642+18A>G
ENST00000527311.7:c.234+371A>G	ENSP00000436695.3:n.234+371A>G
ENST00000530704.6:c.362+18A>G	ENSP00000431655.1:n.362+18A>G
ENST00000641083.1:c.340+18A>G
ENST00000641236.1:n.599+18A>G
ENST00000641319.1:c.362+18A>G	ENSP00000493128.1:n.362+18A>G
ENST00000641471.1:c.449+18A>G	ENSP00000493146.1:n.449+18A>G
ENST00000641548.1:c.*214+18A>G	ENSP00000492984.1:n.*214+18A>G
ENST00000641691.1:c.*214+18A>G	ENSP00000492910.1:n.*214+18A>G
ENST00000641924.1:c.124+5088A>G	ENSP00000493063.1:n.124+5088A>G
ENST00000642050.2:c.362+18A>G MANE Select	ENSP00000493153.1:n.362+18A>G
ENST00000372779.8:c.449+18A>G	ENSP00000361865.4:n.449+18A>G
ENST00000433473.7:c.362+18A>G	ENSP00000394863.3:n.362+18A>G
ENST00000439754.5:c.47+18A>G	ENSP00000403207.1:n.47+18A>G
ENST00000449045.6:c.125-2515A>G	ENSP00000392293.2:n.125-2515A>G
ENST00000526547.1:c.212+18A>G	ENSP00000436481.1:n.212+18A>G
ENST00000527311.6:c.137+18A>G	ENSP00000436695.2:n.137+18A>G
ENST00000529905.5:c.362+18A>G	ENSP00000432053.1:n.362+18A>G
ENST00000530704.5:c.362+18A>G	ENSP00000431655.1:n.362+18A>G
NM_000310.3:c.362+18A>G , LRG_690t1:c.362+18A>G	NP_000301.1:n.362+18A>G
NM_001142604.1:c.125-2515A>G	NP_001136076.1:n.125-2515A>G
XM_005271008.1:c.362+18A>G	XP_005271065.1:n.362+18A>G
NM_001363695.1:c.362+18A>G	NP_001350624.1:n.362+18A>G
NM_000310.4:c.362+18A>G MANE Select	NP_000301.1:n.362+18A>G
NM_001142604.2:c.125-2515A>G	NP_001136076.1:n.125-2515A>G
NM_001363695.2:c.362+18A>G	NP_001350624.1:n.362+18A>G