Canonical Allele Identifier: CA339845368

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539756G>T (hg19) ; chr1:g.40074084G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074084G>T , CM000663.2:g.40074084G>T	GRCh38
NC_000001.10:g.40539756G>T , CM000663.1:g.40539756G>T	GRCh37
NC_000001.9:g.40312343G>T	NCBI36
NG_009192.1:g.28387C>A , LRG_690:g.28387C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.895C>A	ENSP00000394863.4:p.His299Asn
ENST00000439754.6:c.826C>A	ENSP00000403207.2:p.His276Asn
ENST00000449045.7:c.589C>A	ENSP00000392293.2:p.His197Asn
ENST00000530076.6:c.241C>A	ENSP00000434007.1:p.His81Asn
ENST00000530704.6:c.*521C>A	ENSP00000431655.1:n.*521C>A
ENST00000641083.1:c.988C>A
ENST00000641236.1:n.1135C>A
ENST00000641319.1:c.*108C>A	ENSP00000493128.1:n.*108C>A
ENST00000641381.1:c.320C>A
ENST00000641471.1:c.985C>A	ENSP00000493146.1:p.His329Asn
ENST00000641691.1:c.*750C>A	ENSP00000492910.1:n.*750C>A
ENST00000641924.1:c.*327C>A	ENSP00000493063.1:n.*327C>A
ENST00000642050.2:c.898C>A MANE Select	ENSP00000493153.1:p.His300Asn
ENST00000372775.2:n.295C>A
ENST00000433473.7:c.898C>A	ENSP00000394863.3:p.His300Asn
ENST00000439754.5:c.511C>A	ENSP00000403207.1:p.His171Asn
ENST00000449045.6:c.589C>A	ENSP00000392293.2:p.His197Asn
ENST00000529905.5:c.898C>A	ENSP00000432053.1:p.His300Asn
ENST00000530076.5:c.241C>A	ENSP00000434007.1:p.His81Asn
ENST00000530704.5:c.*521C>A	ENSP00000431655.1:n.*521C>A
NM_000310.3:c.898C>A , LRG_690t1:c.898C>A	NP_000301.1:p.His300Asn
NM_001142604.1:c.589C>A	NP_001136076.1:p.His197Asn
XM_005271008.1:c.826C>A	XP_005271065.1:p.His276Asn
NM_001363695.1:c.826C>A	NP_001350624.1:p.His276Asn
NM_000310.4:c.898C>A MANE Select	NP_000301.1:p.His300Asn
NM_001142604.2:c.589C>A	NP_001136076.1:p.His197Asn
NM_001363695.2:c.826C>A	NP_001350624.1:p.His276Asn