Canonical Allele Identifier: CA339845706

Gene: PPT1

Linked Data

• gnomAD v4: 1-40074155-T-C
• MyVariant Identifiers: chr1:g.40539827T>C (hg19) ; chr1:g.40074155T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074155T>C , CM000663.2:g.40074155T>C	GRCh38
NC_000001.10:g.40539827T>C , CM000663.1:g.40539827T>C	GRCh37
NC_000001.9:g.40312414T>C	NCBI36
NG_009192.1:g.28316A>G , LRG_690:g.28316A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.824A>G	ENSP00000394863.4:p.Asn275Ser
ENST00000439754.6:c.755A>G	ENSP00000403207.2:p.Asn252Ser
ENST00000449045.7:c.518A>G	ENSP00000392293.2:p.Asn173Ser
ENST00000527311.7:c.596A>G	ENSP00000436695.3:p.Asn199Ser
ENST00000530076.6:c.170A>G	ENSP00000434007.1:p.Asn57Ser
ENST00000530704.6:c.*450A>G	ENSP00000431655.1:n.*450A>G
ENST00000641083.1:c.917A>G
ENST00000641236.1:n.1064A>G
ENST00000641319.1:c.*37A>G	ENSP00000493128.1:n.*37A>G
ENST00000641381.1:c.249A>G
ENST00000641471.1:c.914A>G	ENSP00000493146.1:p.Asn305Ser
ENST00000641691.1:c.*679A>G	ENSP00000492910.1:n.*679A>G
ENST00000641924.1:c.*256A>G	ENSP00000493063.1:n.*256A>G
ENST00000642050.2:c.827A>G MANE Select	ENSP00000493153.1:p.Asn276Ser
ENST00000372775.2:n.224A>G
ENST00000433473.7:c.827A>G	ENSP00000394863.3:p.Asn276Ser
ENST00000439754.5:c.440A>G	ENSP00000403207.1:p.Asn147Ser
ENST00000449045.6:c.518A>G	ENSP00000392293.2:p.Asn173Ser
ENST00000527311.6:c.602A>G	ENSP00000436695.2:p.Asn201Ser
ENST00000529905.5:c.827A>G	ENSP00000432053.1:p.Asn276Ser
ENST00000530076.5:c.170A>G	ENSP00000434007.1:p.Asn57Ser
ENST00000530704.5:c.*450A>G	ENSP00000431655.1:n.*450A>G
NM_000310.3:c.827A>G , LRG_690t1:c.827A>G	NP_000301.1:p.Asn276Ser
NM_001142604.1:c.518A>G	NP_001136076.1:p.Asn173Ser
XM_005271008.1:c.755A>G	XP_005271065.1:p.Asn252Ser
NM_001363695.1:c.755A>G	NP_001350624.1:p.Asn252Ser
NM_000310.4:c.827A>G MANE Select	NP_000301.1:p.Asn276Ser
NM_001142604.2:c.518A>G	NP_001136076.1:p.Asn173Ser
NM_001363695.2:c.755A>G	NP_001350624.1:p.Asn252Ser