Canonical Allele Identifier: CA417321961

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539748T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074076T>G , CM000663.2:g.40074076T>G	GRCh38
NC_000001.10:g.40539748T>G , CM000663.1:g.40539748T>G	GRCh37
NC_000001.9:g.40312335T>G	NCBI36
NG_009192.1:g.28395A>C , LRG_690:g.28395A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.903A>C	ENSP00000394863.4:p.Ile301=
ENST00000439754.6:c.834A>C	ENSP00000403207.2:p.Ile278=
ENST00000449045.7:c.597A>C	ENSP00000392293.2:p.Ile199=
ENST00000530076.6:c.249A>C	ENSP00000434007.1:p.Ile83=
ENST00000530704.6:c.*529A>C	ENSP00000431655.1:n.*529A>C
ENST00000641083.1:c.996A>C
ENST00000641236.1:n.1143A>C
ENST00000641319.1:c.*116A>C	ENSP00000493128.1:n.*116A>C
ENST00000641381.1:c.328A>C
ENST00000641471.1:c.993A>C	ENSP00000493146.1:p.Ile331=
ENST00000641691.1:c.*758A>C	ENSP00000492910.1:n.*758A>C
ENST00000641924.1:c.*335A>C	ENSP00000493063.1:n.*335A>C
ENST00000642050.2:c.906A>C MANE Select	ENSP00000493153.1:p.Ile302=
ENST00000372775.2:n.303A>C
ENST00000433473.7:c.906A>C	ENSP00000394863.3:p.Ile302=
ENST00000439754.5:c.519A>C	ENSP00000403207.1:p.Ile173=
ENST00000449045.6:c.597A>C	ENSP00000392293.2:p.Ile199=
ENST00000529905.5:c.906A>C	ENSP00000432053.1:p.Ile302=
ENST00000530076.5:c.249A>C	ENSP00000434007.1:p.Ile83=
ENST00000530704.5:c.*529A>C	ENSP00000431655.1:n.*529A>C
NM_000310.3:c.906A>C , LRG_690t1:c.906A>C	NP_000301.1:p.Ile302=
NM_001142604.1:c.597A>C	NP_001136076.1:p.Ile199=
XM_005271008.1:c.834A>C	XP_005271065.1:p.Ile278=
NM_001363695.1:c.834A>C	NP_001350624.1:p.Ile278=
NM_000310.4:c.906A>C MANE Select	NP_000301.1:p.Ile302=
NM_001142604.2:c.597A>C	NP_001136076.1:p.Ile199=
NM_001363695.2:c.834A>C	NP_001350624.1:p.Ile278=