Canonical Allele Identifier: CA339849110

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40557769T>G (hg19) ; chr1:g.40092097T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092097T>G , CM000663.2:g.40092097T>G	GRCh38
NC_000001.10:g.40557769T>G , CM000663.1:g.40557769T>G	GRCh37
NC_000001.9:g.40330356T>G	NCBI36
NG_009192.1:g.10374A>C , LRG_690:g.10374A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*146A>C	ENSP00000361865.5:n.*146A>C
ENST00000433473.8:c.307A>C	ENSP00000394863.4:p.Lys103Gln
ENST00000439754.6:c.310A>C	ENSP00000403207.2:p.Lys104Gln
ENST00000449045.7:c.125-2585A>C	ENSP00000392293.2:n.125-2585A>C
ENST00000526547.2:c.590A>C
ENST00000527311.7:c.234+301A>C	ENSP00000436695.3:n.234+301A>C
ENST00000530704.6:c.310A>C	ENSP00000431655.1:p.Lys104Gln
ENST00000641083.1:c.288A>C
ENST00000641236.1:n.547A>C
ENST00000641319.1:c.310A>C	ENSP00000493128.1:p.Lys104Gln
ENST00000641471.1:c.397A>C	ENSP00000493146.1:p.Lys133Gln
ENST00000641548.1:c.*162A>C	ENSP00000492984.1:n.*162A>C
ENST00000641691.1:c.*162A>C	ENSP00000492910.1:n.*162A>C
ENST00000641924.1:c.124+5018A>C	ENSP00000493063.1:n.124+5018A>C
ENST00000642050.2:c.310A>C MANE Select	ENSP00000493153.1:p.Lys104Gln
ENST00000372779.8:c.397A>C	ENSP00000361865.4:p.Lys133Gln
ENST00000433473.7:c.310A>C	ENSP00000394863.3:p.Lys104Gln
ENST00000449045.6:c.125-2585A>C	ENSP00000392293.2:n.125-2585A>C
ENST00000526547.1:c.160A>C	ENSP00000436481.1:p.Lys54Gln
ENST00000527311.6:c.125-40A>C	ENSP00000436695.2:n.125-40A>C
ENST00000529905.5:c.310A>C	ENSP00000432053.1:p.Lys104Gln
ENST00000530704.5:c.310A>C	ENSP00000431655.1:p.Lys104Gln
NM_000310.3:c.310A>C , LRG_690t1:c.310A>C	NP_000301.1:p.Lys104Gln
NM_001142604.1:c.125-2585A>C	NP_001136076.1:n.125-2585A>C
XM_005271008.1:c.310A>C	XP_005271065.1:p.Lys104Gln
NM_001363695.1:c.310A>C	NP_001350624.1:p.Lys104Gln
NM_000310.4:c.310A>C MANE Select	NP_000301.1:p.Lys104Gln
NM_001142604.2:c.125-2585A>C	NP_001136076.1:n.125-2585A>C
NM_001363695.2:c.310A>C	NP_001350624.1:p.Lys104Gln