Canonical Allele Identifier: CA339845390

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539762A>G (hg19) ; chr1:g.40074090A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074090A>G , CM000663.2:g.40074090A>G	GRCh38
NC_000001.10:g.40539762A>G , CM000663.1:g.40539762A>G	GRCh37
NC_000001.9:g.40312349A>G	NCBI36
NG_009192.1:g.28381T>C , LRG_690:g.28381T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.889T>C	ENSP00000394863.4:p.Tyr297His
ENST00000439754.6:c.820T>C	ENSP00000403207.2:p.Tyr274His
ENST00000449045.7:c.583T>C	ENSP00000392293.2:p.Tyr195His
ENST00000530076.6:c.235T>C	ENSP00000434007.1:p.Tyr79His
ENST00000530704.6:c.*515T>C	ENSP00000431655.1:n.*515T>C
ENST00000641083.1:c.982T>C
ENST00000641236.1:n.1129T>C
ENST00000641319.1:c.*102T>C	ENSP00000493128.1:n.*102T>C
ENST00000641381.1:c.314T>C
ENST00000641471.1:c.979T>C	ENSP00000493146.1:p.Tyr327His
ENST00000641691.1:c.*744T>C	ENSP00000492910.1:n.*744T>C
ENST00000641924.1:c.*321T>C	ENSP00000493063.1:n.*321T>C
ENST00000642050.2:c.892T>C MANE Select	ENSP00000493153.1:p.Tyr298His
ENST00000372775.2:n.289T>C
ENST00000433473.7:c.892T>C	ENSP00000394863.3:p.Tyr298His
ENST00000439754.5:c.505T>C	ENSP00000403207.1:p.Tyr169His
ENST00000449045.6:c.583T>C	ENSP00000392293.2:p.Tyr195His
ENST00000529905.5:c.892T>C	ENSP00000432053.1:p.Tyr298His
ENST00000530076.5:c.235T>C	ENSP00000434007.1:p.Tyr79His
ENST00000530704.5:c.*515T>C	ENSP00000431655.1:n.*515T>C
NM_000310.3:c.892T>C , LRG_690t1:c.892T>C	NP_000301.1:p.Tyr298His
NM_001142604.1:c.583T>C	NP_001136076.1:p.Tyr195His
XM_005271008.1:c.820T>C	XP_005271065.1:p.Tyr274His
NM_001363695.1:c.820T>C	NP_001350624.1:p.Tyr274His
NM_000310.4:c.892T>C MANE Select	NP_000301.1:p.Tyr298His
NM_001142604.2:c.583T>C	NP_001136076.1:p.Tyr195His
NM_001363695.2:c.820T>C	NP_001350624.1:p.Tyr274His