Canonical Allele Identifier: CA339848962

Gene: PPT1

Linked Data

• gnomAD v4: 1-40092049-A-C
• MyVariant Identifiers: chr1:g.40557721A>C (hg19) ; chr1:g.40092049A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092049A>C , CM000663.2:g.40092049A>C	GRCh38
NC_000001.10:g.40557721A>C , CM000663.1:g.40557721A>C	GRCh37
NC_000001.9:g.40330308A>C	NCBI36
NG_009192.1:g.10422T>G , LRG_690:g.10422T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*194T>G	ENSP00000361865.5:n.*194T>G
ENST00000433473.8:c.355T>G	ENSP00000394863.4:p.Phe119Val
ENST00000439754.6:c.358T>G	ENSP00000403207.2:p.Phe120Val
ENST00000449045.7:c.125-2537T>G	ENSP00000392293.2:n.125-2537T>G
ENST00000526547.2:c.638T>G
ENST00000527311.7:c.234+349T>G	ENSP00000436695.3:n.234+349T>G
ENST00000530704.6:c.358T>G	ENSP00000431655.1:p.Phe120Val
ENST00000641083.1:c.336T>G
ENST00000641236.1:n.595T>G
ENST00000641319.1:c.358T>G	ENSP00000493128.1:p.Phe120Val
ENST00000641471.1:c.445T>G	ENSP00000493146.1:p.Phe149Val
ENST00000641548.1:c.*210T>G	ENSP00000492984.1:n.*210T>G
ENST00000641691.1:c.*210T>G	ENSP00000492910.1:n.*210T>G
ENST00000641924.1:c.124+5066T>G	ENSP00000493063.1:n.124+5066T>G
ENST00000642050.2:c.358T>G MANE Select	ENSP00000493153.1:p.Phe120Val
ENST00000372779.8:c.445T>G	ENSP00000361865.4:p.Phe149Val
ENST00000433473.7:c.358T>G	ENSP00000394863.3:p.Phe120Val
ENST00000439754.5:c.43T>G	ENSP00000403207.1:p.Phe15Val
ENST00000449045.6:c.125-2537T>G	ENSP00000392293.2:n.125-2537T>G
ENST00000526547.1:c.208T>G	ENSP00000436481.1:p.Phe70Val
ENST00000527311.6:c.133T>G	ENSP00000436695.2:p.Phe45Val
ENST00000529905.5:c.358T>G	ENSP00000432053.1:p.Phe120Val
ENST00000530704.5:c.358T>G	ENSP00000431655.1:p.Phe120Val
NM_000310.3:c.358T>G , LRG_690t1:c.358T>G	NP_000301.1:p.Phe120Val
NM_001142604.1:c.125-2537T>G	NP_001136076.1:n.125-2537T>G
XM_005271008.1:c.358T>G	XP_005271065.1:p.Phe120Val
NM_001363695.1:c.358T>G	NP_001350624.1:p.Phe120Val
NM_000310.4:c.358T>G MANE Select	NP_000301.1:p.Phe120Val
NM_001142604.2:c.125-2537T>G	NP_001136076.1:n.125-2537T>G
NM_001363695.2:c.358T>G	NP_001350624.1:p.Phe120Val