Canonical Allele Identifier: CA339846666

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40544260T>C (hg19) ; chr1:g.40078588T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078588T>C , CM000663.2:g.40078588T>C	GRCh38
NC_000001.10:g.40544260T>C , CM000663.1:g.40544260T>C	GRCh37
NC_000001.9:g.40316847T>C	NCBI36
NG_009192.1:g.23883A>G , LRG_690:g.23883A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.695A>G	ENSP00000394863.4:p.Asp232Gly
ENST00000439754.6:c.698A>G	ENSP00000403207.2:p.Asp233Gly
ENST00000449045.7:c.389A>G	ENSP00000392293.2:p.Asp130Gly
ENST00000527311.7:c.467A>G	ENSP00000436695.3:p.Asp156Gly
ENST00000530076.6:c.41A>G	ENSP00000434007.1:p.Asp14Gly
ENST00000530704.6:c.*321A>G	ENSP00000431655.1:n.*321A>G
ENST00000641083.1:c.676A>G
ENST00000641236.1:n.935A>G
ENST00000641319.1:c.698A>G	ENSP00000493128.1:p.Asp233Gly
ENST00000641381.1:c.149-1675A>G
ENST00000641471.1:c.785A>G	ENSP00000493146.1:p.Asp262Gly
ENST00000641691.1:c.*550A>G	ENSP00000492910.1:n.*550A>G
ENST00000641924.1:c.*127A>G	ENSP00000493063.1:n.*127A>G
ENST00000642050.2:c.698A>G MANE Select	ENSP00000493153.1:p.Asp233Gly
ENST00000372775.2:n.95A>G
ENST00000372779.8:c.785A>G	ENSP00000361865.4:p.Asp262Gly
ENST00000433473.7:c.698A>G	ENSP00000394863.3:p.Asp233Gly
ENST00000439754.5:c.383A>G	ENSP00000403207.1:p.Asp128Gly
ENST00000449045.6:c.389A>G	ENSP00000392293.2:p.Asp130Gly
ENST00000527311.6:c.473A>G	ENSP00000436695.2:p.Asp158Gly
ENST00000529905.5:c.698A>G	ENSP00000432053.1:p.Asp233Gly
ENST00000530076.5:c.41A>G	ENSP00000434007.1:p.Asp14Gly
ENST00000530704.5:c.*321A>G	ENSP00000431655.1:n.*321A>G
NM_000310.3:c.698A>G , LRG_690t1:c.698A>G	NP_000301.1:p.Asp233Gly
NM_001142604.1:c.389A>G	NP_001136076.1:p.Asp130Gly
XM_005271008.1:c.698A>G	XP_005271065.1:p.Asp233Gly
NM_001363695.1:c.698A>G	NP_001350624.1:p.Asp233Gly
NM_000310.4:c.698A>G MANE Select	NP_000301.1:p.Asp233Gly
NM_001142604.2:c.389A>G	NP_001136076.1:p.Asp130Gly
NM_001363695.2:c.698A>G	NP_001350624.1:p.Asp233Gly