Canonical Allele Identifier: CA339845302

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539741G>A (hg19) ; chr1:g.40074069G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074069G>A , CM000663.2:g.40074069G>A	GRCh38
NC_000001.10:g.40539741G>A , CM000663.1:g.40539741G>A	GRCh37
NC_000001.9:g.40312328G>A	NCBI36
NG_009192.1:g.28402C>T , LRG_690:g.28402C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.910C>T	ENSP00000394863.4:p.Leu304Phe
ENST00000439754.6:c.841C>T	ENSP00000403207.2:p.Leu281Phe
ENST00000449045.7:c.604C>T	ENSP00000392293.2:p.Leu202Phe
ENST00000530076.6:c.256C>T	ENSP00000434007.1:p.Leu86Phe
ENST00000530704.6:c.*536C>T	ENSP00000431655.1:n.*536C>T
ENST00000641083.1:c.1003C>T
ENST00000641236.1:n.1150C>T
ENST00000641319.1:c.*123C>T	ENSP00000493128.1:n.*123C>T
ENST00000641381.1:c.335C>T
ENST00000641471.1:c.1000C>T	ENSP00000493146.1:p.Leu334Phe
ENST00000641691.1:c.*765C>T	ENSP00000492910.1:n.*765C>T
ENST00000641924.1:c.*342C>T	ENSP00000493063.1:n.*342C>T
ENST00000642050.2:c.913C>T MANE Select	ENSP00000493153.1:p.Leu305Phe
ENST00000372775.2:n.310C>T
ENST00000433473.7:c.913C>T	ENSP00000394863.3:p.Leu305Phe
ENST00000439754.5:c.526C>T	ENSP00000403207.1:p.Leu176Phe
ENST00000449045.6:c.604C>T	ENSP00000392293.2:p.Leu202Phe
ENST00000529905.5:c.913C>T	ENSP00000432053.1:p.Leu305Phe
ENST00000530076.5:c.256C>T	ENSP00000434007.1:p.Leu86Phe
ENST00000530704.5:c.*536C>T	ENSP00000431655.1:n.*536C>T
NM_000310.3:c.913C>T , LRG_690t1:c.913C>T	NP_000301.1:p.Leu305Phe
NM_001142604.1:c.604C>T	NP_001136076.1:p.Leu202Phe
XM_005271008.1:c.841C>T	XP_005271065.1:p.Leu281Phe
NM_001363695.1:c.841C>T	NP_001350624.1:p.Leu281Phe
NM_000310.4:c.913C>T MANE Select	NP_000301.1:p.Leu305Phe
NM_001142604.2:c.604C>T	NP_001136076.1:p.Leu202Phe
NM_001363695.2:c.841C>T	NP_001350624.1:p.Leu281Phe