Canonical Allele Identifier: CA339846711

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40544269A>T (hg19) ; chr1:g.40078597A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078597A>T , CM000663.2:g.40078597A>T	GRCh38
NC_000001.10:g.40544269A>T , CM000663.1:g.40544269A>T	GRCh37
NC_000001.9:g.40316856A>T	NCBI36
NG_009192.1:g.23874T>A , LRG_690:g.23874T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.686T>A	ENSP00000394863.4:p.Phe229Tyr
ENST00000439754.6:c.689T>A	ENSP00000403207.2:p.Phe230Tyr
ENST00000449045.7:c.380T>A	ENSP00000392293.2:p.Phe127Tyr
ENST00000527311.7:c.458T>A	ENSP00000436695.3:p.Phe153Tyr
ENST00000530076.6:c.32T>A	ENSP00000434007.1:p.Phe11Tyr
ENST00000530704.6:c.*312T>A	ENSP00000431655.1:n.*312T>A
ENST00000641083.1:c.667T>A
ENST00000641236.1:n.926T>A
ENST00000641319.1:c.689T>A	ENSP00000493128.1:p.Phe230Tyr
ENST00000641381.1:c.149-1684T>A
ENST00000641471.1:c.776T>A	ENSP00000493146.1:p.Phe259Tyr
ENST00000641691.1:c.*541T>A	ENSP00000492910.1:n.*541T>A
ENST00000641924.1:c.*118T>A	ENSP00000493063.1:n.*118T>A
ENST00000642050.2:c.689T>A MANE Select	ENSP00000493153.1:p.Phe230Tyr
ENST00000372775.2:n.86T>A
ENST00000372779.8:c.776T>A	ENSP00000361865.4:p.Phe259Tyr
ENST00000433473.7:c.689T>A	ENSP00000394863.3:p.Phe230Tyr
ENST00000439754.5:c.374T>A	ENSP00000403207.1:p.Phe125Tyr
ENST00000449045.6:c.380T>A	ENSP00000392293.2:p.Phe127Tyr
ENST00000527311.6:c.464T>A	ENSP00000436695.2:p.Phe155Tyr
ENST00000529905.5:c.689T>A	ENSP00000432053.1:p.Phe230Tyr
ENST00000530076.5:c.32T>A	ENSP00000434007.1:p.Phe11Tyr
ENST00000530704.5:c.*312T>A	ENSP00000431655.1:n.*312T>A
NM_000310.3:c.689T>A , LRG_690t1:c.689T>A	NP_000301.1:p.Phe230Tyr
NM_001142604.1:c.380T>A	NP_001136076.1:p.Phe127Tyr
XM_005271008.1:c.689T>A	XP_005271065.1:p.Phe230Tyr
NM_001363695.1:c.689T>A	NP_001350624.1:p.Phe230Tyr
NM_000310.4:c.689T>A MANE Select	NP_000301.1:p.Phe230Tyr
NM_001142604.2:c.380T>A	NP_001136076.1:p.Phe127Tyr
NM_001363695.2:c.689T>A	NP_001350624.1:p.Phe230Tyr