Canonical Allele Identifier: CA339847563

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40546075C>A (hg19) ; chr1:g.40080403C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080403C>A , CM000663.2:g.40080403C>A	GRCh38
NC_000001.10:g.40546075C>A , CM000663.1:g.40546075C>A	GRCh37
NC_000001.9:g.40318662C>A	NCBI36
NG_009192.1:g.22068G>T , LRG_690:g.22068G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.618G>T	ENSP00000394863.4:p.Gln206His
ENST00000439754.6:c.621G>T	ENSP00000403207.2:p.Gln207His
ENST00000449045.7:c.312G>T	ENSP00000392293.2:p.Gln104His
ENST00000527311.7:c.390G>T	ENSP00000436695.3:p.Gln130His
ENST00000530076.6:c.-37G>T	ENSP00000434007.1:n.-37G>T
ENST00000530704.6:c.*244G>T	ENSP00000431655.1:n.*244G>T
ENST00000641083.1:c.599G>T
ENST00000641236.1:n.858G>T
ENST00000641319.1:c.621G>T	ENSP00000493128.1:p.Gln207His
ENST00000641381.1:c.149-3490G>T
ENST00000641471.1:c.708G>T	ENSP00000493146.1:p.Gln236His
ENST00000641691.1:c.*473G>T	ENSP00000492910.1:n.*473G>T
ENST00000641924.1:c.*50G>T	ENSP00000493063.1:n.*50G>T
ENST00000642050.2:c.621G>T MANE Select	ENSP00000493153.1:p.Gln207His
ENST00000372779.8:c.708G>T	ENSP00000361865.4:p.Gln236His
ENST00000433473.7:c.621G>T	ENSP00000394863.3:p.Gln207His
ENST00000439754.5:c.306G>T	ENSP00000403207.1:p.Gln102His
ENST00000449045.6:c.312G>T	ENSP00000392293.2:p.Gln104His
ENST00000527311.6:c.396G>T	ENSP00000436695.2:p.Gln132His
ENST00000529905.5:c.621G>T	ENSP00000432053.1:p.Gln207His
ENST00000530076.5:c.-37G>T	ENSP00000434007.1:n.-37G>T
ENST00000530704.5:c.*244G>T	ENSP00000431655.1:n.*244G>T
NM_000310.3:c.621G>T , LRG_690t1:c.621G>T	NP_000301.1:p.Gln207His
NM_001142604.1:c.312G>T	NP_001136076.1:p.Gln104His
XM_005271008.1:c.621G>T	XP_005271065.1:p.Gln207His
NM_001363695.1:c.621G>T	NP_001350624.1:p.Gln207His
NM_000310.4:c.621G>T MANE Select	NP_000301.1:p.Gln207His
NM_001142604.2:c.312G>T	NP_001136076.1:p.Gln104His
NM_001363695.2:c.621G>T	NP_001350624.1:p.Gln207His