Canonical Allele Identifier: CA339845304

Gene: PPT1

Linked Data

• gnomAD v4: 1-40074069-G-T
• MyVariant Identifiers: chr1:g.40539741G>T (hg19) ; chr1:g.40074069G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.910C>A	ENSP00000394863.4:p.Leu304Ile
ENST00000439754.6:c.841C>A	ENSP00000403207.2:p.Leu281Ile
ENST00000449045.7:c.604C>A	ENSP00000392293.2:p.Leu202Ile
ENST00000530076.6:c.256C>A	ENSP00000434007.1:p.Leu86Ile
ENST00000530704.6:c.*536C>A	ENSP00000431655.1:n.*536C>A
ENST00000641083.1:c.1003C>A
ENST00000641236.1:n.1150C>A
ENST00000641319.1:c.*123C>A	ENSP00000493128.1:n.*123C>A
ENST00000641381.1:c.335C>A
ENST00000641471.1:c.1000C>A	ENSP00000493146.1:p.Leu334Ile
ENST00000641691.1:c.*765C>A	ENSP00000492910.1:n.*765C>A
ENST00000641924.1:c.*342C>A	ENSP00000493063.1:n.*342C>A
ENST00000642050.2:c.913C>A MANE Select	ENSP00000493153.1:p.Leu305Ile
ENST00000372775.2:n.310C>A
ENST00000433473.7:c.913C>A	ENSP00000394863.3:p.Leu305Ile
ENST00000439754.5:c.526C>A	ENSP00000403207.1:p.Leu176Ile
ENST00000449045.6:c.604C>A	ENSP00000392293.2:p.Leu202Ile
ENST00000529905.5:c.913C>A	ENSP00000432053.1:p.Leu305Ile
ENST00000530076.5:c.256C>A	ENSP00000434007.1:p.Leu86Ile
ENST00000530704.5:c.*536C>A	ENSP00000431655.1:n.*536C>A
NM_000310.3:c.913C>A , LRG_690t1:c.913C>A	NP_000301.1:p.Leu305Ile
NM_001142604.1:c.604C>A	NP_001136076.1:p.Leu202Ile
XM_005271008.1:c.841C>A	XP_005271065.1:p.Leu281Ile
NM_001363695.1:c.841C>A	NP_001350624.1:p.Leu281Ile
NM_000310.4:c.913C>A MANE Select	NP_000301.1:p.Leu305Ile
NM_001142604.2:c.604C>A	NP_001136076.1:p.Leu202Ile
NM_001363695.2:c.841C>A	NP_001350624.1:p.Leu281Ile