Canonical Allele Identifier: CA417322237

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40544316G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078644G>C , CM000663.2:g.40078644G>C	GRCh38
NC_000001.10:g.40544316G>C , CM000663.1:g.40544316G>C	GRCh37
NC_000001.9:g.40316903G>C	NCBI36
NG_009192.1:g.23827C>G , LRG_690:g.23827C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000433473.8:c.639C>G	ENSP00000394863.4:p.Ser213=
ENST00000439754.6:c.642C>G	ENSP00000403207.2:p.Ser214=
ENST00000449045.7:c.333C>G	ENSP00000392293.2:p.Ser111=
ENST00000527311.7:c.411C>G	ENSP00000436695.3:p.Ser137=
ENST00000530076.6:c.-16C>G	ENSP00000434007.1:n.-16C>G
ENST00000530704.6:c.*265C>G	ENSP00000431655.1:n.*265C>G
ENST00000641083.1:c.620C>G
ENST00000641236.1:n.879C>G
ENST00000641319.1:c.642C>G	ENSP00000493128.1:p.Ser214=
ENST00000641381.1:c.149-1731C>G
ENST00000641471.1:c.729C>G	ENSP00000493146.1:p.Ser243=
ENST00000641691.1:c.*494C>G	ENSP00000492910.1:n.*494C>G
ENST00000641924.1:c.*71C>G	ENSP00000493063.1:n.*71C>G
ENST00000642050.2:c.642C>G MANE Select	ENSP00000493153.1:p.Ser214=
ENST00000372775.2:n.39C>G
ENST00000372779.8:c.729C>G	ENSP00000361865.4:p.Ser243=
ENST00000433473.7:c.642C>G	ENSP00000394863.3:p.Ser214=
ENST00000439754.5:c.327C>G	ENSP00000403207.1:p.Ser109=
ENST00000449045.6:c.333C>G	ENSP00000392293.2:p.Ser111=
ENST00000527311.6:c.417C>G	ENSP00000436695.2:p.Ser139=
ENST00000529905.5:c.642C>G	ENSP00000432053.1:p.Ser214=
ENST00000530076.5:c.-16C>G	ENSP00000434007.1:n.-16C>G
ENST00000530704.5:c.*265C>G	ENSP00000431655.1:n.*265C>G
NM_000310.3:c.642C>G , LRG_690t1:c.642C>G	NP_000301.1:p.Ser214=
NM_001142604.1:c.333C>G	NP_001136076.1:p.Ser111=
XM_005271008.1:c.642C>G	XP_005271065.1:p.Ser214=
NM_001363695.1:c.642C>G	NP_001350624.1:p.Ser214=
NM_000310.4:c.642C>G MANE Select	NP_000301.1:p.Ser214=
NM_001142604.2:c.333C>G	NP_001136076.1:p.Ser111=
NM_001363695.2:c.642C>G	NP_001350624.1:p.Ser214=