Canonical Allele Identifier: CA339845375

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539759C>A (hg19) ; chr1:g.40074087C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074087C>A , CM000663.2:g.40074087C>A	GRCh38
NC_000001.10:g.40539759C>A , CM000663.1:g.40539759C>A	GRCh37
NC_000001.9:g.40312346C>A	NCBI36
NG_009192.1:g.28384G>T , LRG_690:g.28384G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.892G>T	ENSP00000394863.4:p.Ala298Ser
ENST00000439754.6:c.823G>T	ENSP00000403207.2:p.Ala275Ser
ENST00000449045.7:c.586G>T	ENSP00000392293.2:p.Ala196Ser
ENST00000530076.6:c.238G>T	ENSP00000434007.1:p.Ala80Ser
ENST00000530704.6:c.*518G>T	ENSP00000431655.1:n.*518G>T
ENST00000641083.1:c.985G>T
ENST00000641236.1:n.1132G>T
ENST00000641319.1:c.*105G>T	ENSP00000493128.1:n.*105G>T
ENST00000641381.1:c.317G>T
ENST00000641471.1:c.982G>T	ENSP00000493146.1:p.Ala328Ser
ENST00000641691.1:c.*747G>T	ENSP00000492910.1:n.*747G>T
ENST00000641924.1:c.*324G>T	ENSP00000493063.1:n.*324G>T
ENST00000642050.2:c.895G>T MANE Select	ENSP00000493153.1:p.Ala299Ser
ENST00000372775.2:n.292G>T
ENST00000433473.7:c.895G>T	ENSP00000394863.3:p.Ala299Ser
ENST00000439754.5:c.508G>T	ENSP00000403207.1:p.Ala170Ser
ENST00000449045.6:c.586G>T	ENSP00000392293.2:p.Ala196Ser
ENST00000529905.5:c.895G>T	ENSP00000432053.1:p.Ala299Ser
ENST00000530076.5:c.238G>T	ENSP00000434007.1:p.Ala80Ser
ENST00000530704.5:c.*518G>T	ENSP00000431655.1:n.*518G>T
NM_000310.3:c.895G>T , LRG_690t1:c.895G>T	NP_000301.1:p.Ala299Ser
NM_001142604.1:c.586G>T	NP_001136076.1:p.Ala196Ser
XM_005271008.1:c.823G>T	XP_005271065.1:p.Ala275Ser
NM_001363695.1:c.823G>T	NP_001350624.1:p.Ala275Ser
NM_000310.4:c.895G>T MANE Select	NP_000301.1:p.Ala299Ser
NM_001142604.2:c.586G>T	NP_001136076.1:p.Ala196Ser
NM_001363695.2:c.823G>T	NP_001350624.1:p.Ala275Ser