Canonical Allele Identifier: CA10581621

Gene: PPT1

Linked Data

• ClinVar Variation Id: 236407
• ClinVar RCV Id: RCV000225555
• dbSNP Id: rs878853322
• gnomAD v4: 1-40078573-G-A
• COSMIC: COSM3489515
• MyVariant Identifiers: chr1:g.40544245G>A (hg19) ; chr1:g.40078573G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078573G>A , CM000663.2:g.40078573G>A	GRCh38
NC_000001.10:g.40544245G>A , CM000663.1:g.40544245G>A	GRCh37
NC_000001.9:g.40316832G>A	NCBI36
NG_009192.1:g.23898C>T , LRG_690:g.23898C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.710C>T	ENSP00000394863.4:p.Pro237Leu
ENST00000439754.6:c.713C>T	ENSP00000403207.2:p.Pro238Leu
ENST00000449045.7:c.404C>T	ENSP00000392293.2:p.Pro135Leu
ENST00000527311.7:c.482C>T	ENSP00000436695.3:p.Pro161Leu
ENST00000530076.6:c.56C>T	ENSP00000434007.1:p.Pro19Leu
ENST00000530704.6:c.*336C>T	ENSP00000431655.1:n.*336C>T
ENST00000641083.1:c.691C>T
ENST00000641236.1:n.950C>T
ENST00000641319.1:c.713C>T	ENSP00000493128.1:p.Pro238Leu
ENST00000641381.1:c.149-1660C>T
ENST00000641471.1:c.800C>T	ENSP00000493146.1:p.Pro267Leu
ENST00000641691.1:c.*565C>T	ENSP00000492910.1:n.*565C>T
ENST00000641924.1:c.*142C>T	ENSP00000493063.1:n.*142C>T
ENST00000642050.2:c.713C>T MANE Select	ENSP00000493153.1:p.Pro238Leu
ENST00000372775.2:n.110C>T
ENST00000372779.8:c.800C>T	ENSP00000361865.4:p.Pro267Leu
ENST00000433473.7:c.713C>T	ENSP00000394863.3:p.Pro238Leu
ENST00000439754.5:c.398C>T	ENSP00000403207.1:p.Pro133Leu
ENST00000449045.6:c.404C>T	ENSP00000392293.2:p.Pro135Leu
ENST00000527311.6:c.488C>T	ENSP00000436695.2:p.Pro163Leu
ENST00000529905.5:c.713C>T	ENSP00000432053.1:p.Pro238Leu
ENST00000530076.5:c.56C>T	ENSP00000434007.1:p.Pro19Leu
ENST00000530704.5:c.*336C>T	ENSP00000431655.1:n.*336C>T
NM_000310.3:c.713C>T , LRG_690t1:c.713C>T	NP_000301.1:p.Pro238Leu
NM_001142604.1:c.404C>T	NP_001136076.1:p.Pro135Leu
XM_005271008.1:c.713C>T	XP_005271065.1:p.Pro238Leu
NM_001363695.1:c.713C>T	NP_001350624.1:p.Pro238Leu
NM_000310.4:c.713C>T MANE Select	NP_000301.1:p.Pro238Leu
NM_001142604.2:c.404C>T	NP_001136076.1:p.Pro135Leu
NM_001363695.2:c.713C>T	NP_001350624.1:p.Pro238Leu