Canonical Allele Identifier: CA339845731

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539832C>A (hg19) ; chr1:g.40074160C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074160C>A , CM000663.2:g.40074160C>A	GRCh38
NC_000001.10:g.40539832C>A , CM000663.1:g.40539832C>A	GRCh37
NC_000001.9:g.40312419C>A	NCBI36
NG_009192.1:g.28311G>T , LRG_690:g.28311G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.819G>T	ENSP00000394863.4:p.Met273Ile
ENST00000439754.6:c.750G>T	ENSP00000403207.2:p.Met250Ile
ENST00000449045.7:c.513G>T	ENSP00000392293.2:p.Met171Ile
ENST00000527311.7:c.591G>T	ENSP00000436695.3:p.Met197Ile
ENST00000530076.6:c.165G>T	ENSP00000434007.1:p.Met55Ile
ENST00000530704.6:c.*445G>T	ENSP00000431655.1:n.*445G>T
ENST00000641083.1:c.912G>T
ENST00000641236.1:n.1059G>T
ENST00000641319.1:c.*32G>T	ENSP00000493128.1:n.*32G>T
ENST00000641381.1:c.244G>T
ENST00000641471.1:c.909G>T	ENSP00000493146.1:p.Met303Ile
ENST00000641691.1:c.*674G>T	ENSP00000492910.1:n.*674G>T
ENST00000641924.1:c.*251G>T	ENSP00000493063.1:n.*251G>T
ENST00000642050.2:c.822G>T MANE Select	ENSP00000493153.1:p.Met274Ile
ENST00000372775.2:n.219G>T
ENST00000433473.7:c.822G>T	ENSP00000394863.3:p.Met274Ile
ENST00000439754.5:c.435G>T	ENSP00000403207.1:p.Met145Ile
ENST00000449045.6:c.513G>T	ENSP00000392293.2:p.Met171Ile
ENST00000527311.6:c.597G>T	ENSP00000436695.2:p.Met199Ile
ENST00000529905.5:c.822G>T	ENSP00000432053.1:p.Met274Ile
ENST00000530076.5:c.165G>T	ENSP00000434007.1:p.Met55Ile
ENST00000530704.5:c.*445G>T	ENSP00000431655.1:n.*445G>T
NM_000310.3:c.822G>T , LRG_690t1:c.822G>T	NP_000301.1:p.Met274Ile
NM_001142604.1:c.513G>T	NP_001136076.1:p.Met171Ile
XM_005271008.1:c.750G>T	XP_005271065.1:p.Met250Ile
NM_001363695.1:c.750G>T	NP_001350624.1:p.Met250Ile
NM_000310.4:c.822G>T MANE Select	NP_000301.1:p.Met274Ile
NM_001142604.2:c.513G>T	NP_001136076.1:p.Met171Ile
NM_001363695.2:c.750G>T	NP_001350624.1:p.Met250Ile