Canonical Allele Identifier: CA339848971

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40557724G>C (hg19) ; chr1:g.40092052G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092052G>C , CM000663.2:g.40092052G>C	GRCh38
NC_000001.10:g.40557724G>C , CM000663.1:g.40557724G>C	GRCh37
NC_000001.9:g.40330311G>C	NCBI36
NG_009192.1:g.10419C>G , LRG_690:g.10419C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*191C>G	ENSP00000361865.5:n.*191C>G
ENST00000433473.8:c.352C>G	ENSP00000394863.4:p.Gln118Glu
ENST00000439754.6:c.355C>G	ENSP00000403207.2:p.Gln119Glu
ENST00000449045.7:c.125-2540C>G	ENSP00000392293.2:n.125-2540C>G
ENST00000526547.2:c.635C>G
ENST00000527311.7:c.234+346C>G	ENSP00000436695.3:n.234+346C>G
ENST00000530704.6:c.355C>G	ENSP00000431655.1:p.Gln119Glu
ENST00000641083.1:c.333C>G
ENST00000641236.1:n.592C>G
ENST00000641319.1:c.355C>G	ENSP00000493128.1:p.Gln119Glu
ENST00000641471.1:c.442C>G	ENSP00000493146.1:p.Gln148Glu
ENST00000641548.1:c.*207C>G	ENSP00000492984.1:n.*207C>G
ENST00000641691.1:c.*207C>G	ENSP00000492910.1:n.*207C>G
ENST00000641924.1:c.124+5063C>G	ENSP00000493063.1:n.124+5063C>G
ENST00000642050.2:c.355C>G MANE Select	ENSP00000493153.1:p.Gln119Glu
ENST00000372779.8:c.442C>G	ENSP00000361865.4:p.Gln148Glu
ENST00000433473.7:c.355C>G	ENSP00000394863.3:p.Gln119Glu
ENST00000439754.5:c.40C>G	ENSP00000403207.1:p.Gln14Glu
ENST00000449045.6:c.125-2540C>G	ENSP00000392293.2:n.125-2540C>G
ENST00000526547.1:c.205C>G	ENSP00000436481.1:p.Gln69Glu
ENST00000527311.6:c.130C>G	ENSP00000436695.2:p.Gln44Glu
ENST00000529905.5:c.355C>G	ENSP00000432053.1:p.Gln119Glu
ENST00000530704.5:c.355C>G	ENSP00000431655.1:p.Gln119Glu
NM_000310.3:c.355C>G , LRG_690t1:c.355C>G	NP_000301.1:p.Gln119Glu
NM_001142604.1:c.125-2540C>G	NP_001136076.1:n.125-2540C>G
XM_005271008.1:c.355C>G	XP_005271065.1:p.Gln119Glu
NM_001363695.1:c.355C>G	NP_001350624.1:p.Gln119Glu
NM_000310.4:c.355C>G MANE Select	NP_000301.1:p.Gln119Glu
NM_001142604.2:c.125-2540C>G	NP_001136076.1:n.125-2540C>G
NM_001363695.2:c.355C>G	NP_001350624.1:p.Gln119Glu