Canonical Allele Identifier: CA316954

Gene: PPT1

Linked Data

• ClinVar Variation Id: 206651
• ClinVar RCV Id: RCV000188725 ; RCV000410251
• dbSNP Id: rs796052927
• gnomAD v2: 1-40562909-A-G
• gnomAD v4: 1-40097237-A-G
• MyVariant Identifiers: chr1:g.40562909A>G (hg19) ; chr1:g.40097237A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40097237A>G , CM000663.2:g.40097237A>G	GRCh38
NC_000001.10:g.40562909A>G , CM000663.1:g.40562909A>G	GRCh37
NC_000001.9:g.40335496A>G	NCBI36
NG_009192.1:g.5234T>C , LRG_690:g.5234T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.2T>C	ENSP00000361865.5:p.Met1Thr
ENST00000433473.8:c.2T>C	ENSP00000394863.4:p.Met1Thr
ENST00000439754.6:c.2T>C	ENSP00000403207.2:p.Met1Thr
ENST00000449045.7:c.2T>C	ENSP00000392293.2:p.Met1Thr
ENST00000527311.7:c.2T>C	ENSP00000436695.3:p.Met1Thr
ENST00000530704.6:c.2T>C	ENSP00000431655.1:p.Met1Thr
ENST00000641236.1:n.14T>C
ENST00000641319.1:c.2T>C	ENSP00000493128.1:p.Met1Thr
ENST00000641471.1:c.2T>C	ENSP00000493146.1:p.Met1Thr
ENST00000641548.1:c.2T>C	ENSP00000492984.1:p.Met1Thr
ENST00000641691.1:c.2T>C	ENSP00000492910.1:p.Met1Thr
ENST00000641924.1:c.2T>C	ENSP00000493063.1:p.Met1Thr
ENST00000642050.2:c.2T>C MANE Select	ENSP00000493153.1:p.Met1Thr
ENST00000372779.8:c.2T>C	ENSP00000361865.4:p.Met1Thr
ENST00000433473.7:c.2T>C	ENSP00000394863.3:p.Met1Thr
ENST00000449045.6:c.2T>C	ENSP00000392293.2:p.Met1Thr
ENST00000527311.6:c.2T>C	ENSP00000436695.2:p.Met1Thr
ENST00000529905.5:c.2T>C	ENSP00000432053.1:p.Met1Thr
ENST00000530704.5:c.2T>C	ENSP00000431655.1:p.Met1Thr
NM_000310.3:c.2T>C , LRG_690t1:c.2T>C	NP_000301.1:p.Met1Thr
NM_001142604.1:c.2T>C	NP_001136076.1:p.Met1Thr
XM_005271008.1:c.2T>C	XP_005271065.1:p.Met1Thr
NM_001363695.1:c.2T>C	NP_001350624.1:p.Met1Thr
NM_000310.4:c.2T>C MANE Select	NP_000301.1:p.Met1Thr
NM_001142604.2:c.2T>C	NP_001136076.1:p.Met1Thr
NM_001363695.2:c.2T>C	NP_001350624.1:p.Met1Thr