Canonical Allele Identifier: CA339846696

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40544266A>T (hg19) ; chr1:g.40078594A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078594A>T , CM000663.2:g.40078594A>T	GRCh38
NC_000001.10:g.40544266A>T , CM000663.1:g.40544266A>T	GRCh37
NC_000001.9:g.40316853A>T	NCBI36
NG_009192.1:g.23877T>A , LRG_690:g.23877T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.689T>A	ENSP00000394863.4:p.Leu230His
ENST00000439754.6:c.692T>A	ENSP00000403207.2:p.Leu231His
ENST00000449045.7:c.383T>A	ENSP00000392293.2:p.Leu128His
ENST00000527311.7:c.461T>A	ENSP00000436695.3:p.Leu154His
ENST00000530076.6:c.35T>A	ENSP00000434007.1:p.Leu12His
ENST00000530704.6:c.*315T>A	ENSP00000431655.1:n.*315T>A
ENST00000641083.1:c.670T>A
ENST00000641236.1:n.929T>A
ENST00000641319.1:c.692T>A	ENSP00000493128.1:p.Leu231His
ENST00000641381.1:c.149-1681T>A
ENST00000641471.1:c.779T>A	ENSP00000493146.1:p.Leu260His
ENST00000641691.1:c.*544T>A	ENSP00000492910.1:n.*544T>A
ENST00000641924.1:c.*121T>A	ENSP00000493063.1:n.*121T>A
ENST00000642050.2:c.692T>A MANE Select	ENSP00000493153.1:p.Leu231His
ENST00000372775.2:n.89T>A
ENST00000372779.8:c.779T>A	ENSP00000361865.4:p.Leu260His
ENST00000433473.7:c.692T>A	ENSP00000394863.3:p.Leu231His
ENST00000439754.5:c.377T>A	ENSP00000403207.1:p.Leu126His
ENST00000449045.6:c.383T>A	ENSP00000392293.2:p.Leu128His
ENST00000527311.6:c.467T>A	ENSP00000436695.2:p.Leu156His
ENST00000529905.5:c.692T>A	ENSP00000432053.1:p.Leu231His
ENST00000530076.5:c.35T>A	ENSP00000434007.1:p.Leu12His
ENST00000530704.5:c.*315T>A	ENSP00000431655.1:n.*315T>A
NM_000310.3:c.692T>A , LRG_690t1:c.692T>A	NP_000301.1:p.Leu231His
NM_001142604.1:c.383T>A	NP_001136076.1:p.Leu128His
XM_005271008.1:c.692T>A	XP_005271065.1:p.Leu231His
NM_001363695.1:c.692T>A	NP_001350624.1:p.Leu231His
NM_000310.4:c.692T>A MANE Select	NP_000301.1:p.Leu231His
NM_001142604.2:c.383T>A	NP_001136076.1:p.Leu128His
NM_001363695.2:c.692T>A	NP_001350624.1:p.Leu231His