Canonical Allele Identifier: CA339848859

Gene: PPT1

Linked Data

• gnomAD v4: 1-40091359-T-G
• MyVariant Identifiers: chr1:g.40557031T>G (hg19) ; chr1:g.40091359T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091359T>G , CM000663.2:g.40091359T>G	GRCh38
NC_000001.10:g.40557031T>G , CM000663.1:g.40557031T>G	GRCh37
NC_000001.9:g.40329618T>G	NCBI36
NG_009192.1:g.11112A>C , LRG_690:g.11112A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*239A>C	ENSP00000361865.5:n.*239A>C
ENST00000433473.8:c.400A>C	ENSP00000394863.4:p.Asn134His
ENST00000439754.6:c.403A>C	ENSP00000403207.2:p.Asn135His
ENST00000449045.7:c.125-1847A>C	ENSP00000392293.2:n.125-1847A>C
ENST00000526547.2:c.683A>C
ENST00000527311.7:c.275A>C	ENSP00000436695.3:p.Gln92Pro
ENST00000530704.6:c.403A>C	ENSP00000431655.1:p.Asn135His
ENST00000641083.1:c.381A>C
ENST00000641236.1:n.640A>C
ENST00000641319.1:c.403A>C	ENSP00000493128.1:p.Asn135His
ENST00000641381.1:c.15A>C
ENST00000641471.1:c.490A>C	ENSP00000493146.1:p.Asn164His
ENST00000641548.1:c.*255A>C	ENSP00000492984.1:n.*255A>C
ENST00000641691.1:c.*255A>C	ENSP00000492910.1:n.*255A>C
ENST00000641924.1:c.124+5756A>C	ENSP00000493063.1:n.124+5756A>C
ENST00000642050.2:c.403A>C MANE Select	ENSP00000493153.1:p.Asn135His
ENST00000372779.8:c.490A>C	ENSP00000361865.4:p.Asn164His
ENST00000433473.7:c.403A>C	ENSP00000394863.3:p.Asn135His
ENST00000439754.5:c.88A>C	ENSP00000403207.1:p.Asn30His
ENST00000449045.6:c.125-1847A>C	ENSP00000392293.2:n.125-1847A>C
ENST00000526547.1:c.253A>C	ENSP00000436481.1:p.Asn85His
ENST00000527311.6:c.178A>C	ENSP00000436695.2:p.Asn60His
ENST00000529905.5:c.403A>C	ENSP00000432053.1:p.Asn135His
ENST00000530704.5:c.403A>C	ENSP00000431655.1:p.Asn135His
NM_000310.3:c.403A>C , LRG_690t1:c.403A>C	NP_000301.1:p.Asn135His
NM_001142604.1:c.125-1847A>C	NP_001136076.1:n.125-1847A>C
XM_005271008.1:c.403A>C	XP_005271065.1:p.Asn135His
NM_001363695.1:c.403A>C	NP_001350624.1:p.Asn135His
NM_000310.4:c.403A>C MANE Select	NP_000301.1:p.Asn135His
NM_001142604.2:c.125-1847A>C	NP_001136076.1:n.125-1847A>C
NM_001363695.2:c.403A>C	NP_001350624.1:p.Asn135His