Canonical Allele Identifier: CA339847644

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40546093G>T (hg19) ; chr1:g.40080421G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080421G>T , CM000663.2:g.40080421G>T	GRCh38
NC_000001.10:g.40546093G>T , CM000663.1:g.40546093G>T	GRCh37
NC_000001.9:g.40318680G>T	NCBI36
NG_009192.1:g.22050C>A , LRG_690:g.22050C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.600C>A	ENSP00000394863.4:p.Phe200Leu
ENST00000439754.6:c.603C>A	ENSP00000403207.2:p.Phe201Leu
ENST00000449045.7:c.294C>A	ENSP00000392293.2:p.Phe98Leu
ENST00000527311.7:c.372C>A	ENSP00000436695.3:p.Phe124Leu
ENST00000530076.6:c.-55C>A	ENSP00000434007.1:n.-55C>A
ENST00000530704.6:c.*226C>A	ENSP00000431655.1:n.*226C>A
ENST00000641083.1:c.581C>A
ENST00000641236.1:n.840C>A
ENST00000641319.1:c.603C>A	ENSP00000493128.1:p.Phe201Leu
ENST00000641381.1:c.149-3508C>A
ENST00000641471.1:c.690C>A	ENSP00000493146.1:p.Phe230Leu
ENST00000641691.1:c.*455C>A	ENSP00000492910.1:n.*455C>A
ENST00000641924.1:c.*32C>A	ENSP00000493063.1:n.*32C>A
ENST00000642050.2:c.603C>A MANE Select	ENSP00000493153.1:p.Phe201Leu
ENST00000372779.8:c.690C>A	ENSP00000361865.4:p.Phe230Leu
ENST00000433473.7:c.603C>A	ENSP00000394863.3:p.Phe201Leu
ENST00000439754.5:c.288C>A	ENSP00000403207.1:p.Phe96Leu
ENST00000449045.6:c.294C>A	ENSP00000392293.2:p.Phe98Leu
ENST00000527311.6:c.378C>A	ENSP00000436695.2:p.Phe126Leu
ENST00000529905.5:c.603C>A	ENSP00000432053.1:p.Phe201Leu
ENST00000530076.5:c.-55C>A	ENSP00000434007.1:n.-55C>A
ENST00000530704.5:c.*226C>A	ENSP00000431655.1:n.*226C>A
NM_000310.3:c.603C>A , LRG_690t1:c.603C>A	NP_000301.1:p.Phe201Leu
NM_001142604.1:c.294C>A	NP_001136076.1:p.Phe98Leu
XM_005271008.1:c.603C>A	XP_005271065.1:p.Phe201Leu
NM_001363695.1:c.603C>A	NP_001350624.1:p.Phe201Leu
NM_000310.4:c.603C>A MANE Select	NP_000301.1:p.Phe201Leu
NM_001142604.2:c.294C>A	NP_001136076.1:p.Phe98Leu
NM_001363695.2:c.603C>A	NP_001350624.1:p.Phe201Leu