Canonical Allele Identifier: CA339845352

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539754G>C (hg19) ; chr1:g.40074082G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074082G>C , CM000663.2:g.40074082G>C	GRCh38
NC_000001.10:g.40539754G>C , CM000663.1:g.40539754G>C	GRCh37
NC_000001.9:g.40312341G>C	NCBI36
NG_009192.1:g.28389C>G , LRG_690:g.28389C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.897C>G	ENSP00000394863.4:p.His299Gln
ENST00000439754.6:c.828C>G	ENSP00000403207.2:p.His276Gln
ENST00000449045.7:c.591C>G	ENSP00000392293.2:p.His197Gln
ENST00000530076.6:c.243C>G	ENSP00000434007.1:p.His81Gln
ENST00000530704.6:c.*523C>G	ENSP00000431655.1:n.*523C>G
ENST00000641083.1:c.990C>G
ENST00000641236.1:n.1137C>G
ENST00000641319.1:c.*110C>G	ENSP00000493128.1:n.*110C>G
ENST00000641381.1:c.322C>G
ENST00000641471.1:c.987C>G	ENSP00000493146.1:p.His329Gln
ENST00000641691.1:c.*752C>G	ENSP00000492910.1:n.*752C>G
ENST00000641924.1:c.*329C>G	ENSP00000493063.1:n.*329C>G
ENST00000642050.2:c.900C>G MANE Select	ENSP00000493153.1:p.His300Gln
ENST00000372775.2:n.297C>G
ENST00000433473.7:c.900C>G	ENSP00000394863.3:p.His300Gln
ENST00000439754.5:c.513C>G	ENSP00000403207.1:p.His171Gln
ENST00000449045.6:c.591C>G	ENSP00000392293.2:p.His197Gln
ENST00000529905.5:c.900C>G	ENSP00000432053.1:p.His300Gln
ENST00000530076.5:c.243C>G	ENSP00000434007.1:p.His81Gln
ENST00000530704.5:c.*523C>G	ENSP00000431655.1:n.*523C>G
NM_000310.3:c.900C>G , LRG_690t1:c.900C>G	NP_000301.1:p.His300Gln
NM_001142604.1:c.591C>G	NP_001136076.1:p.His197Gln
XM_005271008.1:c.828C>G	XP_005271065.1:p.His276Gln
NM_001363695.1:c.828C>G	NP_001350624.1:p.His276Gln
NM_000310.4:c.900C>G MANE Select	NP_000301.1:p.His300Gln
NM_001142604.2:c.591C>G	NP_001136076.1:p.His197Gln
NM_001363695.2:c.828C>G	NP_001350624.1:p.His276Gln