Canonical Allele Identifier: CA339845292

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539735A>G (hg19) ; chr1:g.40074063A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074063A>G , CM000663.2:g.40074063A>G	GRCh38
NC_000001.10:g.40539735A>G , CM000663.1:g.40539735A>G	GRCh37
NC_000001.9:g.40312322A>G	NCBI36
NG_009192.1:g.28408T>C , LRG_690:g.28408T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.916T>C	ENSP00000394863.4:p.Ter306Arg
ENST00000439754.6:c.847T>C	ENSP00000403207.2:p.Ter283Arg
ENST00000449045.7:c.610T>C	ENSP00000392293.2:p.Ter204Arg
ENST00000530076.6:c.262T>C	ENSP00000434007.1:p.Ter88Arg
ENST00000530704.6:c.*542T>C	ENSP00000431655.1:n.*542T>C
ENST00000641083.1:c.1009T>C
ENST00000641236.1:n.1156T>C
ENST00000641319.1:c.*129T>C	ENSP00000493128.1:n.*129T>C
ENST00000641381.1:c.341T>C
ENST00000641471.1:c.1006T>C	ENSP00000493146.1:p.Ter336Arg
ENST00000641691.1:c.*771T>C	ENSP00000492910.1:n.*771T>C
ENST00000641924.1:c.*348T>C	ENSP00000493063.1:n.*348T>C
ENST00000642050.2:c.919T>C MANE Select	ENSP00000493153.1:p.Ter307Arg
ENST00000372775.2:n.316T>C
ENST00000433473.7:c.919T>C	ENSP00000394863.3:p.Ter307Arg
ENST00000439754.5:c.532T>C	ENSP00000403207.1:p.Ter178Arg
ENST00000449045.6:c.610T>C	ENSP00000392293.2:p.Ter204Arg
ENST00000529905.5:c.919T>C	ENSP00000432053.1:p.Ter307Arg
ENST00000530076.5:c.262T>C	ENSP00000434007.1:p.Ter88Arg
ENST00000530704.5:c.*542T>C	ENSP00000431655.1:n.*542T>C
NM_000310.3:c.919T>C , LRG_690t1:c.919T>C	NP_000301.1:p.Ter307Arg
NM_001142604.1:c.610T>C	NP_001136076.1:p.Ter204Arg
XM_005271008.1:c.847T>C	XP_005271065.1:p.Ter283Arg
NM_001363695.1:c.847T>C	NP_001350624.1:p.Ter283Arg
NM_000310.4:c.919T>C MANE Select	NP_000301.1:p.Ter307Arg
NM_001142604.2:c.610T>C	NP_001136076.1:p.Ter204Arg
NM_001363695.2:c.847T>C	NP_001350624.1:p.Ter283Arg