Canonical Allele Identifier: CA339850215

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40558172G>C (hg19) ; chr1:g.40092500G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092500G>C , CM000663.2:g.40092500G>C	GRCh38
NC_000001.10:g.40558172G>C , CM000663.1:g.40558172G>C	GRCh37
NC_000001.9:g.40330759G>C	NCBI36
NG_009192.1:g.9971C>G , LRG_690:g.9971C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.136C>G	ENSP00000361865.5:p.Leu46Val
ENST00000433473.8:c.129C>G	ENSP00000394863.4:p.Ser43Arg
ENST00000439754.6:c.132C>G	ENSP00000403207.2:p.Ser44Arg
ENST00000449045.7:c.125-2988C>G	ENSP00000392293.2:n.125-2988C>G
ENST00000526547.2:c.412C>G
ENST00000527311.7:c.132C>G	ENSP00000436695.3:p.Ser44Arg
ENST00000530704.6:c.132C>G	ENSP00000431655.1:p.Ser44Arg
ENST00000641083.1:c.110C>G
ENST00000641236.1:n.144C>G
ENST00000641319.1:c.132C>G	ENSP00000493128.1:p.Ser44Arg
ENST00000641471.1:c.219C>G	ENSP00000493146.1:p.Ser73Arg
ENST00000641548.1:c.125C>G	ENSP00000492984.1:p.Ala42Gly
ENST00000641691.1:c.125C>G	ENSP00000492910.1:p.Ala42Gly
ENST00000641924.1:c.124+4615C>G	ENSP00000493063.1:n.124+4615C>G
ENST00000642050.2:c.132C>G MANE Select	ENSP00000493153.1:p.Ser44Arg
ENST00000372779.8:c.219C>G	ENSP00000361865.4:p.Ser73Arg
ENST00000433473.7:c.132C>G	ENSP00000394863.3:p.Ser44Arg
ENST00000449045.6:c.125-2988C>G	ENSP00000392293.2:n.125-2988C>G
ENST00000526547.1:c.-19C>G	ENSP00000436481.1:n.-19C>G
ENST00000527311.6:c.125-443C>G	ENSP00000436695.2:n.125-443C>G
ENST00000529905.5:c.132C>G	ENSP00000432053.1:p.Ser44Arg
ENST00000530704.5:c.132C>G	ENSP00000431655.1:p.Ser44Arg
NM_000310.3:c.132C>G , LRG_690t1:c.132C>G	NP_000301.1:p.Ser44Arg
NM_001142604.1:c.125-2988C>G	NP_001136076.1:n.125-2988C>G
XM_005271008.1:c.132C>G	XP_005271065.1:p.Ser44Arg
NM_001363695.1:c.132C>G	NP_001350624.1:p.Ser44Arg
NM_000310.4:c.132C>G MANE Select	NP_000301.1:p.Ser44Arg
NM_001142604.2:c.125-2988C>G	NP_001136076.1:n.125-2988C>G
NM_001363695.2:c.132C>G	NP_001350624.1:p.Ser44Arg