Canonical Allele Identifier: CA292904

Gene: PPT1

Linked Data

• ClinVar Variation Id: 138795
• ClinVar RCV Id: RCV000127589
• dbSNP Id: rs199882794
• ExAC: 1:40539721 A / G
• gnomAD v2: 1-40539721-A-G
• gnomAD v3: 1-40074049-A-G
• gnomAD v4: 1-40074049-A-G
• MyVariant Identifiers: chr1:g.40539721A>G (hg19) ; chr1:g.40074049A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074049A>G , CM000663.2:g.40074049A>G	GRCh38
NC_000001.10:g.40539721A>G , CM000663.1:g.40539721A>G	GRCh37
NC_000001.9:g.40312308A>G	NCBI36
NG_009192.1:g.28422T>C , LRG_690:g.28422T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.*12T>C	ENSP00000394863.4:n.*12T>C
ENST00000439754.6:c.*12T>C	ENSP00000403207.2:n.*12T>C
ENST00000449045.7:c.*12T>C	ENSP00000392293.2:n.*12T>C
ENST00000530076.6:c.*12T>C	ENSP00000434007.1:n.*12T>C
ENST00000530704.6:c.*556T>C	ENSP00000431655.1:n.*556T>C
ENST00000641083.1:c.1023T>C
ENST00000641236.1:n.1170T>C
ENST00000641319.1:c.*143T>C	ENSP00000493128.1:n.*143T>C
ENST00000641381.1:c.355T>C
ENST00000641471.1:c.*12T>C	ENSP00000493146.1:n.*12T>C
ENST00000641691.1:c.*785T>C	ENSP00000492910.1:n.*785T>C
ENST00000641924.1:c.*362T>C	ENSP00000493063.1:n.*362T>C
ENST00000642050.2:c.*12T>C MANE Select	ENSP00000493153.1:n.*12T>C
ENST00000372775.2:n.330T>C
ENST00000433473.7:c.*12T>C	ENSP00000394863.3:n.*12T>C
ENST00000439754.5:c.546T>C	ENSP00000403207.1:n.546T>C
ENST00000449045.6:c.*12T>C	ENSP00000392293.2:n.*12T>C
ENST00000529905.5:c.*12T>C	ENSP00000432053.1:n.*12T>C
ENST00000530076.5:c.*12T>C	ENSP00000434007.1:n.*12T>C
ENST00000530704.5:c.*556T>C	ENSP00000431655.1:n.*556T>C
NM_000310.3:c.*12T>C , LRG_690t1:c.*12T>C	NP_000301.1:n.*12T>C
NM_001142604.1:c.*12T>C	NP_001136076.1:n.*12T>C
XM_005271008.1:c.*12T>C	XP_005271065.1:n.*12T>C
NM_001363695.1:c.*12T>C	NP_001350624.1:n.*12T>C
NM_000310.4:c.*12T>C MANE Select	NP_000301.1:n.*12T>C
NM_001142604.2:c.*12T>C	NP_001136076.1:n.*12T>C
NM_001363695.2:c.*12T>C	NP_001350624.1:n.*12T>C