Canonical Allele Identifier: CA735693889

Gene: PPT1

Linked Data

• dbSNP Id: rs1239600600
• MyVariant Identifiers: chr1:g.40557360A>G (hg19) ; chr1:g.40091688A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091688A>G , CM000663.2:g.40091688A>G	GRCh38
NC_000001.10:g.40557360A>G , CM000663.1:g.40557360A>G	GRCh37
NC_000001.9:g.40329947A>G	NCBI36
NG_009192.1:g.10783T>C , LRG_690:g.10783T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*199-289T>C	ENSP00000361865.5:n.*199-289T>C
ENST00000433473.8:c.360-289T>C	ENSP00000394863.4:n.360-289T>C
ENST00000439754.6:c.363-289T>C	ENSP00000403207.2:n.363-289T>C
ENST00000449045.7:c.125-2176T>C	ENSP00000392293.2:n.125-2176T>C
ENST00000526547.2:c.643-289T>C
ENST00000527311.7:c.235-289T>C	ENSP00000436695.3:n.235-289T>C
ENST00000530704.6:c.363-289T>C	ENSP00000431655.1:n.363-289T>C
ENST00000641083.1:c.341-289T>C
ENST00000641236.1:n.600-289T>C
ENST00000641319.1:c.363-289T>C	ENSP00000493128.1:n.363-289T>C
ENST00000641471.1:c.450-289T>C	ENSP00000493146.1:n.450-289T>C
ENST00000641548.1:c.*215-289T>C	ENSP00000492984.1:n.*215-289T>C
ENST00000641691.1:c.*215-289T>C	ENSP00000492910.1:n.*215-289T>C
ENST00000641924.1:c.124+5427T>C	ENSP00000493063.1:n.124+5427T>C
ENST00000642050.2:c.363-289T>C MANE Select	ENSP00000493153.1:n.363-289T>C
ENST00000372779.8:c.450-289T>C	ENSP00000361865.4:n.450-289T>C
ENST00000433473.7:c.363-289T>C	ENSP00000394863.3:n.363-289T>C
ENST00000439754.5:c.48-289T>C	ENSP00000403207.1:n.48-289T>C
ENST00000449045.6:c.125-2176T>C	ENSP00000392293.2:n.125-2176T>C
ENST00000526547.1:c.213-289T>C	ENSP00000436481.1:n.213-289T>C
ENST00000527311.6:c.138-289T>C	ENSP00000436695.2:n.138-289T>C
ENST00000529905.5:c.363-289T>C	ENSP00000432053.1:n.363-289T>C
ENST00000530704.5:c.363-289T>C	ENSP00000431655.1:n.363-289T>C
NM_000310.3:c.363-289T>C , LRG_690t1:c.363-289T>C	NP_000301.1:n.363-289T>C
NM_001142604.1:c.125-2176T>C	NP_001136076.1:n.125-2176T>C
XM_005271008.1:c.363-289T>C	XP_005271065.1:n.363-289T>C
NM_001363695.1:c.363-289T>C	NP_001350624.1:n.363-289T>C
NM_000310.4:c.363-289T>C MANE Select	NP_000301.1:n.363-289T>C
NM_001142604.2:c.125-2176T>C	NP_001136076.1:n.125-2176T>C
NM_001363695.2:c.363-289T>C	NP_001350624.1:n.363-289T>C