Canonical Allele Identifier: CA339850113

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40558159A>C (hg19) ; chr1:g.40092487A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092487A>C , CM000663.2:g.40092487A>C	GRCh38
NC_000001.10:g.40558159A>C , CM000663.1:g.40558159A>C	GRCh37
NC_000001.9:g.40330746A>C	NCBI36
NG_009192.1:g.9984T>G , LRG_690:g.9984T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.149T>G	ENSP00000361865.5:p.Leu50Arg
ENST00000433473.8:c.142T>G	ENSP00000394863.4:p.Leu48Val
ENST00000439754.6:c.145T>G	ENSP00000403207.2:p.Leu49Val
ENST00000449045.7:c.125-2975T>G	ENSP00000392293.2:n.125-2975T>G
ENST00000526547.2:c.425T>G
ENST00000527311.7:c.145T>G	ENSP00000436695.3:p.Leu49Val
ENST00000530704.6:c.145T>G	ENSP00000431655.1:p.Leu49Val
ENST00000641083.1:c.123T>G
ENST00000641236.1:n.157T>G
ENST00000641319.1:c.145T>G	ENSP00000493128.1:p.Leu49Val
ENST00000641471.1:c.232T>G	ENSP00000493146.1:p.Leu78Val
ENST00000641548.1:c.138T>G	ENSP00000492984.1:p.Pro46=
ENST00000641691.1:c.138T>G	ENSP00000492910.1:p.Pro46=
ENST00000641924.1:c.124+4628T>G	ENSP00000493063.1:n.124+4628T>G
ENST00000642050.2:c.145T>G MANE Select	ENSP00000493153.1:p.Leu49Val
ENST00000372779.8:c.232T>G	ENSP00000361865.4:p.Leu78Val
ENST00000433473.7:c.145T>G	ENSP00000394863.3:p.Leu49Val
ENST00000449045.6:c.125-2975T>G	ENSP00000392293.2:n.125-2975T>G
ENST00000526547.1:c.-6T>G	ENSP00000436481.1:n.-6T>G
ENST00000527311.6:c.125-430T>G	ENSP00000436695.2:n.125-430T>G
ENST00000529905.5:c.145T>G	ENSP00000432053.1:p.Leu49Val
ENST00000530704.5:c.145T>G	ENSP00000431655.1:p.Leu49Val
NM_000310.3:c.145T>G , LRG_690t1:c.145T>G	NP_000301.1:p.Leu49Val
NM_001142604.1:c.125-2975T>G	NP_001136076.1:n.125-2975T>G
XM_005271008.1:c.145T>G	XP_005271065.1:p.Leu49Val
NM_001363695.1:c.145T>G	NP_001350624.1:p.Leu49Val
NM_000310.4:c.145T>G MANE Select	NP_000301.1:p.Leu49Val
NM_001142604.2:c.125-2975T>G	NP_001136076.1:n.125-2975T>G
NM_001363695.2:c.145T>G	NP_001350624.1:p.Leu49Val