Canonical Allele Identifier: CA789590

Gene: PPT1

Linked Data

• ClinVar Variation Id: 297245
• ClinVar RCV Id: RCV000595399 ; RCV000697554
• dbSNP Id: rs375190067
• ExAC: 1:40544282 C / T
• gnomAD v2: 1-40544282-C-T
• gnomAD v3: 1-40078610-C-T
• gnomAD v4: 1-40078610-C-T
• MyVariant Identifiers: chr1:g.40544282C>T (hg19) ; chr1:g.40078610C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078610C>T , CM000663.2:g.40078610C>T	GRCh38
NC_000001.10:g.40544282C>T , CM000663.1:g.40544282C>T	GRCh37
NC_000001.9:g.40316869C>T	NCBI36
NG_009192.1:g.23861G>A , LRG_690:g.23861G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.673G>A	ENSP00000394863.4:p.Val225Met
ENST00000439754.6:c.676G>A	ENSP00000403207.2:p.Val226Met
ENST00000449045.7:c.367G>A	ENSP00000392293.2:p.Val123Met
ENST00000527311.7:c.445G>A	ENSP00000436695.3:p.Val149Met
ENST00000530076.6:c.19G>A	ENSP00000434007.1:p.Val7Met
ENST00000530704.6:c.*299G>A	ENSP00000431655.1:n.*299G>A
ENST00000641083.1:c.654G>A
ENST00000641236.1:n.913G>A
ENST00000641319.1:c.676G>A	ENSP00000493128.1:p.Val226Met
ENST00000641381.1:c.149-1697G>A
ENST00000641471.1:c.763G>A	ENSP00000493146.1:p.Val255Met
ENST00000641691.1:c.*528G>A	ENSP00000492910.1:n.*528G>A
ENST00000641924.1:c.*105G>A	ENSP00000493063.1:n.*105G>A
ENST00000642050.2:c.676G>A MANE Select	ENSP00000493153.1:p.Val226Met
ENST00000372775.2:n.73G>A
ENST00000372779.8:c.763G>A	ENSP00000361865.4:p.Val255Met
ENST00000433473.7:c.676G>A	ENSP00000394863.3:p.Val226Met
ENST00000439754.5:c.361G>A	ENSP00000403207.1:p.Val121Met
ENST00000449045.6:c.367G>A	ENSP00000392293.2:p.Val123Met
ENST00000527311.6:c.451G>A	ENSP00000436695.2:p.Val151Met
ENST00000529905.5:c.676G>A	ENSP00000432053.1:p.Val226Met
ENST00000530076.5:c.19G>A	ENSP00000434007.1:p.Val7Met
ENST00000530704.5:c.*299G>A	ENSP00000431655.1:n.*299G>A
NM_000310.3:c.676G>A , LRG_690t1:c.676G>A	NP_000301.1:p.Val226Met
NM_001142604.1:c.367G>A	NP_001136076.1:p.Val123Met
XM_005271008.1:c.676G>A	XP_005271065.1:p.Val226Met
NM_001363695.1:c.676G>A	NP_001350624.1:p.Val226Met
NM_000310.4:c.676G>A MANE Select	NP_000301.1:p.Val226Met
NM_001142604.2:c.367G>A	NP_001136076.1:p.Val123Met
NM_001363695.2:c.676G>A	NP_001350624.1:p.Val226Met