Canonical Allele Identifier: CA339846929

Gene: PPT1

Linked Data

• dbSNP Id: rs1648758859
• MyVariant Identifiers: chr1:g.40544318A>C (hg19) ; chr1:g.40078646A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078646A>C , CM000663.2:g.40078646A>C	GRCh38
NC_000001.10:g.40544318A>C , CM000663.1:g.40544318A>C	GRCh37
NC_000001.9:g.40316905A>C	NCBI36
NG_009192.1:g.23825T>G , LRG_690:g.23825T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000433473.8:c.637T>G	ENSP00000394863.4:p.Ser213Ala
ENST00000439754.6:c.640T>G	ENSP00000403207.2:p.Ser214Ala
ENST00000449045.7:c.331T>G	ENSP00000392293.2:p.Ser111Ala
ENST00000527311.7:c.409T>G	ENSP00000436695.3:p.Ser137Ala
ENST00000530076.6:c.-18T>G	ENSP00000434007.1:n.-18T>G
ENST00000530704.6:c.*263T>G	ENSP00000431655.1:n.*263T>G
ENST00000641083.1:c.618T>G
ENST00000641236.1:n.877T>G
ENST00000641319.1:c.640T>G	ENSP00000493128.1:p.Ser214Ala
ENST00000641381.1:c.149-1733T>G
ENST00000641471.1:c.727T>G	ENSP00000493146.1:p.Ser243Ala
ENST00000641691.1:c.*492T>G	ENSP00000492910.1:n.*492T>G
ENST00000641924.1:c.*69T>G	ENSP00000493063.1:n.*69T>G
ENST00000642050.2:c.640T>G MANE Select	ENSP00000493153.1:p.Ser214Ala
ENST00000372775.2:n.37T>G
ENST00000372779.8:c.727T>G	ENSP00000361865.4:p.Ser243Ala
ENST00000433473.7:c.640T>G	ENSP00000394863.3:p.Ser214Ala
ENST00000439754.5:c.325T>G	ENSP00000403207.1:p.Ser109Ala
ENST00000449045.6:c.331T>G	ENSP00000392293.2:p.Ser111Ala
ENST00000527311.6:c.415T>G	ENSP00000436695.2:p.Ser139Ala
ENST00000529905.5:c.640T>G	ENSP00000432053.1:p.Ser214Ala
ENST00000530076.5:c.-18T>G	ENSP00000434007.1:n.-18T>G
ENST00000530704.5:c.*263T>G	ENSP00000431655.1:n.*263T>G
NM_000310.3:c.640T>G , LRG_690t1:c.640T>G	NP_000301.1:p.Ser214Ala
NM_001142604.1:c.331T>G	NP_001136076.1:p.Ser111Ala
XM_005271008.1:c.640T>G	XP_005271065.1:p.Ser214Ala
NM_001363695.1:c.640T>G	NP_001350624.1:p.Ser214Ala
NM_000310.4:c.640T>G MANE Select	NP_000301.1:p.Ser214Ala
NM_001142604.2:c.331T>G	NP_001136076.1:p.Ser111Ala
NM_001363695.2:c.640T>G	NP_001350624.1:p.Ser214Ala