Canonical Allele Identifier: CA417322234

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40544310C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078638C>T , CM000663.2:g.40078638C>T	GRCh38
NC_000001.10:g.40544310C>T , CM000663.1:g.40544310C>T	GRCh37
NC_000001.9:g.40316897C>T	NCBI36
NG_009192.1:g.23833G>A , LRG_690:g.23833G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000433473.8:c.645G>A	ENSP00000394863.4:p.Lys215=
ENST00000439754.6:c.648G>A	ENSP00000403207.2:p.Lys216=
ENST00000449045.7:c.339G>A	ENSP00000392293.2:p.Lys113=
ENST00000527311.7:c.417G>A	ENSP00000436695.3:p.Lys139=
ENST00000530076.6:c.-10G>A	ENSP00000434007.1:n.-10G>A
ENST00000530704.6:c.*271G>A	ENSP00000431655.1:n.*271G>A
ENST00000641083.1:c.626G>A
ENST00000641236.1:n.885G>A
ENST00000641319.1:c.648G>A	ENSP00000493128.1:p.Lys216=
ENST00000641381.1:c.149-1725G>A
ENST00000641471.1:c.735G>A	ENSP00000493146.1:p.Lys245=
ENST00000641691.1:c.*500G>A	ENSP00000492910.1:n.*500G>A
ENST00000641924.1:c.*77G>A	ENSP00000493063.1:n.*77G>A
ENST00000642050.2:c.648G>A MANE Select	ENSP00000493153.1:p.Lys216=
ENST00000372775.2:n.45G>A
ENST00000372779.8:c.735G>A	ENSP00000361865.4:p.Lys245=
ENST00000433473.7:c.648G>A	ENSP00000394863.3:p.Lys216=
ENST00000439754.5:c.333G>A	ENSP00000403207.1:p.Lys111=
ENST00000449045.6:c.339G>A	ENSP00000392293.2:p.Lys113=
ENST00000527311.6:c.423G>A	ENSP00000436695.2:p.Lys141=
ENST00000529905.5:c.648G>A	ENSP00000432053.1:p.Lys216=
ENST00000530076.5:c.-10G>A	ENSP00000434007.1:n.-10G>A
ENST00000530704.5:c.*271G>A	ENSP00000431655.1:n.*271G>A
NM_000310.3:c.648G>A , LRG_690t1:c.648G>A	NP_000301.1:p.Lys216=
NM_001142604.1:c.339G>A	NP_001136076.1:p.Lys113=
XM_005271008.1:c.648G>A	XP_005271065.1:p.Lys216=
NM_001363695.1:c.648G>A	NP_001350624.1:p.Lys216=
NM_000310.4:c.648G>A MANE Select	NP_000301.1:p.Lys216=
NM_001142604.2:c.339G>A	NP_001136076.1:p.Lys113=
NM_001363695.2:c.648G>A	NP_001350624.1:p.Lys216=