Canonical Allele Identifier: CA339845721

Gene: PPT1

Linked Data

• gnomAD v4: 1-40074158-T-C
• MyVariant Identifiers: chr1:g.40539830T>C (hg19) ; chr1:g.40074158T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074158T>C , CM000663.2:g.40074158T>C	GRCh38
NC_000001.10:g.40539830T>C , CM000663.1:g.40539830T>C	GRCh37
NC_000001.9:g.40312417T>C	NCBI36
NG_009192.1:g.28313A>G , LRG_690:g.28313A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.821A>G	ENSP00000394863.4:p.Asp274Gly
ENST00000439754.6:c.752A>G	ENSP00000403207.2:p.Asp251Gly
ENST00000449045.7:c.515A>G	ENSP00000392293.2:p.Asp172Gly
ENST00000527311.7:c.593A>G	ENSP00000436695.3:p.Asp198Gly
ENST00000530076.6:c.167A>G	ENSP00000434007.1:p.Asp56Gly
ENST00000530704.6:c.*447A>G	ENSP00000431655.1:n.*447A>G
ENST00000641083.1:c.914A>G
ENST00000641236.1:n.1061A>G
ENST00000641319.1:c.*34A>G	ENSP00000493128.1:n.*34A>G
ENST00000641381.1:c.246A>G
ENST00000641471.1:c.911A>G	ENSP00000493146.1:p.Asp304Gly
ENST00000641691.1:c.*676A>G	ENSP00000492910.1:n.*676A>G
ENST00000641924.1:c.*253A>G	ENSP00000493063.1:n.*253A>G
ENST00000642050.2:c.824A>G MANE Select	ENSP00000493153.1:p.Asp275Gly
ENST00000372775.2:n.221A>G
ENST00000433473.7:c.824A>G	ENSP00000394863.3:p.Asp275Gly
ENST00000439754.5:c.437A>G	ENSP00000403207.1:p.Asp146Gly
ENST00000449045.6:c.515A>G	ENSP00000392293.2:p.Asp172Gly
ENST00000527311.6:c.599A>G	ENSP00000436695.2:p.Asp200Gly
ENST00000529905.5:c.824A>G	ENSP00000432053.1:p.Asp275Gly
ENST00000530076.5:c.167A>G	ENSP00000434007.1:p.Asp56Gly
ENST00000530704.5:c.*447A>G	ENSP00000431655.1:n.*447A>G
NM_000310.3:c.824A>G , LRG_690t1:c.824A>G	NP_000301.1:p.Asp275Gly
NM_001142604.1:c.515A>G	NP_001136076.1:p.Asp172Gly
XM_005271008.1:c.752A>G	XP_005271065.1:p.Asp251Gly
NM_001363695.1:c.752A>G	NP_001350624.1:p.Asp251Gly
NM_000310.4:c.824A>G MANE Select	NP_000301.1:p.Asp275Gly
NM_001142604.2:c.515A>G	NP_001136076.1:p.Asp172Gly
NM_001363695.2:c.752A>G	NP_001350624.1:p.Asp251Gly