Canonical Allele Identifier: CA339847929

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40546157A>C (hg19) ; chr1:g.40080485A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080485A>C , CM000663.2:g.40080485A>C	GRCh38
NC_000001.10:g.40546157A>C , CM000663.1:g.40546157A>C	GRCh37
NC_000001.9:g.40318744A>C	NCBI36
NG_009192.1:g.21986T>G , LRG_690:g.21986T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*375T>G	ENSP00000361865.5:n.*375T>G
ENST00000433473.8:c.536T>G	ENSP00000394863.4:p.Leu179Arg
ENST00000439754.6:c.539T>G	ENSP00000403207.2:p.Leu180Arg
ENST00000449045.7:c.230T>G	ENSP00000392293.2:p.Leu77Arg
ENST00000527311.7:c.308T>G	ENSP00000436695.3:p.Leu103Arg
ENST00000530076.6:c.-119T>G	ENSP00000434007.1:n.-119T>G
ENST00000530704.6:c.*162T>G	ENSP00000431655.1:n.*162T>G
ENST00000641083.1:c.517T>G
ENST00000641236.1:n.776T>G
ENST00000641319.1:c.539T>G	ENSP00000493128.1:p.Leu180Arg
ENST00000641381.1:c.149-3572T>G
ENST00000641471.1:c.626T>G	ENSP00000493146.1:p.Leu209Arg
ENST00000641691.1:c.*391T>G	ENSP00000492910.1:n.*391T>G
ENST00000641924.1:c.127T>G	ENSP00000493063.1:p.Ser43Ala
ENST00000642050.2:c.539T>G MANE Select	ENSP00000493153.1:p.Leu180Arg
ENST00000372779.8:c.626T>G	ENSP00000361865.4:p.Leu209Arg
ENST00000433473.7:c.539T>G	ENSP00000394863.3:p.Leu180Arg
ENST00000439754.5:c.224T>G	ENSP00000403207.1:p.Leu75Arg
ENST00000449045.6:c.230T>G	ENSP00000392293.2:p.Leu77Arg
ENST00000527311.6:c.314T>G	ENSP00000436695.2:p.Leu105Arg
ENST00000529905.5:c.539T>G	ENSP00000432053.1:p.Leu180Arg
ENST00000530076.5:c.-119T>G	ENSP00000434007.1:n.-119T>G
ENST00000530704.5:c.*162T>G	ENSP00000431655.1:n.*162T>G
NM_000310.3:c.539T>G , LRG_690t1:c.539T>G	NP_000301.1:p.Leu180Arg
NM_001142604.1:c.230T>G	NP_001136076.1:p.Leu77Arg
XM_005271008.1:c.539T>G	XP_005271065.1:p.Leu180Arg
NM_001363695.1:c.539T>G	NP_001350624.1:p.Leu180Arg
NM_000310.4:c.539T>G MANE Select	NP_000301.1:p.Leu180Arg
NM_001142604.2:c.230T>G	NP_001136076.1:p.Leu77Arg
NM_001363695.2:c.539T>G	NP_001350624.1:p.Leu180Arg