Canonical Allele Identifier: CA339846714

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40544270A>G (hg19) ; chr1:g.40078598A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078598A>G , CM000663.2:g.40078598A>G	GRCh38
NC_000001.10:g.40544270A>G , CM000663.1:g.40544270A>G	GRCh37
NC_000001.9:g.40316857A>G	NCBI36
NG_009192.1:g.23873T>C , LRG_690:g.23873T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.685T>C	ENSP00000394863.4:p.Phe229Leu
ENST00000439754.6:c.688T>C	ENSP00000403207.2:p.Phe230Leu
ENST00000449045.7:c.379T>C	ENSP00000392293.2:p.Phe127Leu
ENST00000527311.7:c.457T>C	ENSP00000436695.3:p.Phe153Leu
ENST00000530076.6:c.31T>C	ENSP00000434007.1:p.Phe11Leu
ENST00000530704.6:c.*311T>C	ENSP00000431655.1:n.*311T>C
ENST00000641083.1:c.666T>C
ENST00000641236.1:n.925T>C
ENST00000641319.1:c.688T>C	ENSP00000493128.1:p.Phe230Leu
ENST00000641381.1:c.149-1685T>C
ENST00000641471.1:c.775T>C	ENSP00000493146.1:p.Phe259Leu
ENST00000641691.1:c.*540T>C	ENSP00000492910.1:n.*540T>C
ENST00000641924.1:c.*117T>C	ENSP00000493063.1:n.*117T>C
ENST00000642050.2:c.688T>C MANE Select	ENSP00000493153.1:p.Phe230Leu
ENST00000372775.2:n.85T>C
ENST00000372779.8:c.775T>C	ENSP00000361865.4:p.Phe259Leu
ENST00000433473.7:c.688T>C	ENSP00000394863.3:p.Phe230Leu
ENST00000439754.5:c.373T>C	ENSP00000403207.1:p.Phe125Leu
ENST00000449045.6:c.379T>C	ENSP00000392293.2:p.Phe127Leu
ENST00000527311.6:c.463T>C	ENSP00000436695.2:p.Phe155Leu
ENST00000529905.5:c.688T>C	ENSP00000432053.1:p.Phe230Leu
ENST00000530076.5:c.31T>C	ENSP00000434007.1:p.Phe11Leu
ENST00000530704.5:c.*311T>C	ENSP00000431655.1:n.*311T>C
NM_000310.3:c.688T>C , LRG_690t1:c.688T>C	NP_000301.1:p.Phe230Leu
NM_001142604.1:c.379T>C	NP_001136076.1:p.Phe127Leu
XM_005271008.1:c.688T>C	XP_005271065.1:p.Phe230Leu
NM_001363695.1:c.688T>C	NP_001350624.1:p.Phe230Leu
NM_000310.4:c.688T>C MANE Select	NP_000301.1:p.Phe230Leu
NM_001142604.2:c.379T>C	NP_001136076.1:p.Phe127Leu
NM_001363695.2:c.688T>C	NP_001350624.1:p.Phe230Leu