Canonical Allele Identifier: CA417321998

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539802A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074130A>C , CM000663.2:g.40074130A>C	GRCh38
NC_000001.10:g.40539802A>C , CM000663.1:g.40539802A>C	GRCh37
NC_000001.9:g.40312389A>C	NCBI36
NG_009192.1:g.28341T>G , LRG_690:g.28341T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.849T>G	ENSP00000394863.4:p.Ala283=
ENST00000439754.6:c.780T>G	ENSP00000403207.2:p.Ala260=
ENST00000449045.7:c.543T>G	ENSP00000392293.2:p.Ala181=
ENST00000527311.7:c.621T>G	ENSP00000436695.3:p.Ala207=
ENST00000530076.6:c.195T>G	ENSP00000434007.1:p.Ala65=
ENST00000530704.6:c.*475T>G	ENSP00000431655.1:n.*475T>G
ENST00000641083.1:c.942T>G
ENST00000641236.1:n.1089T>G
ENST00000641319.1:c.*62T>G	ENSP00000493128.1:n.*62T>G
ENST00000641381.1:c.274T>G
ENST00000641471.1:c.939T>G	ENSP00000493146.1:p.Ala313=
ENST00000641691.1:c.*704T>G	ENSP00000492910.1:n.*704T>G
ENST00000641924.1:c.*281T>G	ENSP00000493063.1:n.*281T>G
ENST00000642050.2:c.852T>G MANE Select	ENSP00000493153.1:p.Ala284=
ENST00000372775.2:n.249T>G
ENST00000433473.7:c.852T>G	ENSP00000394863.3:p.Ala284=
ENST00000439754.5:c.465T>G	ENSP00000403207.1:p.Ala155=
ENST00000449045.6:c.543T>G	ENSP00000392293.2:p.Ala181=
ENST00000529905.5:c.852T>G	ENSP00000432053.1:p.Ala284=
ENST00000530076.5:c.195T>G	ENSP00000434007.1:p.Ala65=
ENST00000530704.5:c.*475T>G	ENSP00000431655.1:n.*475T>G
NM_000310.3:c.852T>G , LRG_690t1:c.852T>G	NP_000301.1:p.Ala284=
NM_001142604.1:c.543T>G	NP_001136076.1:p.Ala181=
XM_005271008.1:c.780T>G	XP_005271065.1:p.Ala260=
NM_001363695.1:c.780T>G	NP_001350624.1:p.Ala260=
NM_000310.4:c.852T>G MANE Select	NP_000301.1:p.Ala284=
NM_001142604.2:c.543T>G	NP_001136076.1:p.Ala181=
NM_001363695.2:c.780T>G	NP_001350624.1:p.Ala260=