Canonical Allele Identifier: CA417322851

Gene: PPT1

Linked Data

• ClinVar Variation Id: 465412
• ClinVar RCV Id: RCV000531034
• dbSNP Id: rs1477732757
• gnomAD v3: 1-40092407-G-A
• gnomAD v4: 1-40092407-G-A
• MyVariant Identifiers: chr1:g.40558079G>A (hg19) ; chr1:g.40092407G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092407G>A , CM000663.2:g.40092407G>A	GRCh38
NC_000001.10:g.40558079G>A , CM000663.1:g.40558079G>A	GRCh37
NC_000001.9:g.40330666G>A	NCBI36
NG_009192.1:g.10064C>T , LRG_690:g.10064C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*61C>T	ENSP00000361865.5:n.*61C>T
ENST00000433473.8:c.222C>T	ENSP00000394863.4:p.Thr74=
ENST00000439754.6:c.225C>T	ENSP00000403207.2:p.Thr75=
ENST00000449045.7:c.125-2895C>T	ENSP00000392293.2:n.125-2895C>T
ENST00000526547.2:c.505C>T
ENST00000527311.7:c.225C>T	ENSP00000436695.3:p.Thr75=
ENST00000530704.6:c.225C>T	ENSP00000431655.1:p.Thr75=
ENST00000641083.1:c.203C>T
ENST00000641236.1:n.237C>T
ENST00000641319.1:c.225C>T	ENSP00000493128.1:p.Thr75=
ENST00000641471.1:c.312C>T	ENSP00000493146.1:p.Thr104=
ENST00000641548.1:c.*77C>T	ENSP00000492984.1:n.*77C>T
ENST00000641691.1:c.*77C>T	ENSP00000492910.1:n.*77C>T
ENST00000641924.1:c.124+4708C>T	ENSP00000493063.1:n.124+4708C>T
ENST00000642050.2:c.225C>T MANE Select	ENSP00000493153.1:p.Thr75=
ENST00000372779.8:c.312C>T	ENSP00000361865.4:p.Thr104=
ENST00000433473.7:c.225C>T	ENSP00000394863.3:p.Thr75=
ENST00000449045.6:c.125-2895C>T	ENSP00000392293.2:n.125-2895C>T
ENST00000526547.1:c.75C>T	ENSP00000436481.1:p.Thr25=
ENST00000527311.6:c.125-350C>T	ENSP00000436695.2:n.125-350C>T
ENST00000529905.5:c.225C>T	ENSP00000432053.1:p.Thr75=
ENST00000530704.5:c.225C>T	ENSP00000431655.1:p.Thr75=
NM_000310.3:c.225C>T , LRG_690t1:c.225C>T	NP_000301.1:p.Thr75=
NM_001142604.1:c.125-2895C>T	NP_001136076.1:n.125-2895C>T
XM_005271008.1:c.225C>T	XP_005271065.1:p.Thr75=
NM_001363695.1:c.225C>T	NP_001350624.1:p.Thr75=
NM_000310.4:c.225C>T MANE Select	NP_000301.1:p.Thr75=
NM_001142604.2:c.125-2895C>T	NP_001136076.1:n.125-2895C>T
NM_001363695.2:c.225C>T	NP_001350624.1:p.Thr75=