Canonical Allele Identifier: CA339847765

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40546119C>G (hg19) ; chr1:g.40080447C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080447C>G , CM000663.2:g.40080447C>G	GRCh38
NC_000001.10:g.40546119C>G , CM000663.1:g.40546119C>G	GRCh37
NC_000001.9:g.40318706C>G	NCBI36
NG_009192.1:g.22024G>C , LRG_690:g.22024G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*413G>C	ENSP00000361865.5:n.*413G>C
ENST00000433473.8:c.574G>C	ENSP00000394863.4:p.Asp192His
ENST00000439754.6:c.577G>C	ENSP00000403207.2:p.Asp193His
ENST00000449045.7:c.268G>C	ENSP00000392293.2:p.Asp90His
ENST00000527311.7:c.346G>C	ENSP00000436695.3:p.Asp116His
ENST00000530076.6:c.-81G>C	ENSP00000434007.1:n.-81G>C
ENST00000530704.6:c.*200G>C	ENSP00000431655.1:n.*200G>C
ENST00000641083.1:c.555G>C
ENST00000641236.1:n.814G>C
ENST00000641319.1:c.577G>C	ENSP00000493128.1:p.Asp193His
ENST00000641381.1:c.149-3534G>C
ENST00000641471.1:c.664G>C	ENSP00000493146.1:p.Asp222His
ENST00000641691.1:c.*429G>C	ENSP00000492910.1:n.*429G>C
ENST00000641924.1:c.*6G>C	ENSP00000493063.1:n.*6G>C
ENST00000642050.2:c.577G>C MANE Select	ENSP00000493153.1:p.Asp193His
ENST00000372779.8:c.664G>C	ENSP00000361865.4:p.Asp222His
ENST00000433473.7:c.577G>C	ENSP00000394863.3:p.Asp193His
ENST00000439754.5:c.262G>C	ENSP00000403207.1:p.Asp88His
ENST00000449045.6:c.268G>C	ENSP00000392293.2:p.Asp90His
ENST00000527311.6:c.352G>C	ENSP00000436695.2:p.Asp118His
ENST00000529905.5:c.577G>C	ENSP00000432053.1:p.Asp193His
ENST00000530076.5:c.-81G>C	ENSP00000434007.1:n.-81G>C
ENST00000530704.5:c.*200G>C	ENSP00000431655.1:n.*200G>C
NM_000310.3:c.577G>C , LRG_690t1:c.577G>C	NP_000301.1:p.Asp193His
NM_001142604.1:c.268G>C	NP_001136076.1:p.Asp90His
XM_005271008.1:c.577G>C	XP_005271065.1:p.Asp193His
NM_001363695.1:c.577G>C	NP_001350624.1:p.Asp193His
NM_000310.4:c.577G>C MANE Select	NP_000301.1:p.Asp193His
NM_001142604.2:c.268G>C	NP_001136076.1:p.Asp90His
NM_001363695.2:c.577G>C	NP_001350624.1:p.Asp193His