Canonical Allele Identifier: CA339845534

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539788T>G (hg19) ; chr1:g.40074116T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074116T>G , CM000663.2:g.40074116T>G	GRCh38
NC_000001.10:g.40539788T>G , CM000663.1:g.40539788T>G	GRCh37
NC_000001.9:g.40312375T>G	NCBI36
NG_009192.1:g.28355A>C , LRG_690:g.28355A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.863A>C	ENSP00000394863.4:p.His288Pro
ENST00000439754.6:c.794A>C	ENSP00000403207.2:p.His265Pro
ENST00000449045.7:c.557A>C	ENSP00000392293.2:p.His186Pro
ENST00000530076.6:c.209A>C	ENSP00000434007.1:p.His70Pro
ENST00000530704.6:c.*489A>C	ENSP00000431655.1:n.*489A>C
ENST00000641083.1:c.956A>C
ENST00000641236.1:n.1103A>C
ENST00000641319.1:c.*76A>C	ENSP00000493128.1:n.*76A>C
ENST00000641381.1:c.288A>C
ENST00000641471.1:c.953A>C	ENSP00000493146.1:p.His318Pro
ENST00000641691.1:c.*718A>C	ENSP00000492910.1:n.*718A>C
ENST00000641924.1:c.*295A>C	ENSP00000493063.1:n.*295A>C
ENST00000642050.2:c.866A>C MANE Select	ENSP00000493153.1:p.His289Pro
ENST00000372775.2:n.263A>C
ENST00000433473.7:c.866A>C	ENSP00000394863.3:p.His289Pro
ENST00000439754.5:c.479A>C	ENSP00000403207.1:p.His160Pro
ENST00000449045.6:c.557A>C	ENSP00000392293.2:p.His186Pro
ENST00000529905.5:c.866A>C	ENSP00000432053.1:p.His289Pro
ENST00000530076.5:c.209A>C	ENSP00000434007.1:p.His70Pro
ENST00000530704.5:c.*489A>C	ENSP00000431655.1:n.*489A>C
NM_000310.3:c.866A>C , LRG_690t1:c.866A>C	NP_000301.1:p.His289Pro
NM_001142604.1:c.557A>C	NP_001136076.1:p.His186Pro
XM_005271008.1:c.794A>C	XP_005271065.1:p.His265Pro
NM_001363695.1:c.794A>C	NP_001350624.1:p.His265Pro
NM_000310.4:c.866A>C MANE Select	NP_000301.1:p.His289Pro
NM_001142604.2:c.557A>C	NP_001136076.1:p.His186Pro
NM_001363695.2:c.794A>C	NP_001350624.1:p.His265Pro