Canonical Allele Identifier: CA339849670

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40558094T>G (hg19) ; chr1:g.40092422T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092422T>G , CM000663.2:g.40092422T>G	GRCh38
NC_000001.10:g.40558094T>G , CM000663.1:g.40558094T>G	GRCh37
NC_000001.9:g.40330681T>G	NCBI36
NG_009192.1:g.10049A>C , LRG_690:g.10049A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*46A>C	ENSP00000361865.5:n.*46A>C
ENST00000433473.8:c.207A>C	ENSP00000394863.4:p.Leu69Phe
ENST00000439754.6:c.210A>C	ENSP00000403207.2:p.Leu70Phe
ENST00000449045.7:c.125-2910A>C	ENSP00000392293.2:n.125-2910A>C
ENST00000526547.2:c.490A>C
ENST00000527311.7:c.210A>C	ENSP00000436695.3:p.Leu70Phe
ENST00000530704.6:c.210A>C	ENSP00000431655.1:p.Leu70Phe
ENST00000641083.1:c.188A>C
ENST00000641236.1:n.222A>C
ENST00000641319.1:c.210A>C	ENSP00000493128.1:p.Leu70Phe
ENST00000641471.1:c.297A>C	ENSP00000493146.1:p.Leu99Phe
ENST00000641548.1:c.*62A>C	ENSP00000492984.1:n.*62A>C
ENST00000641691.1:c.*62A>C	ENSP00000492910.1:n.*62A>C
ENST00000641924.1:c.124+4693A>C	ENSP00000493063.1:n.124+4693A>C
ENST00000642050.2:c.210A>C MANE Select	ENSP00000493153.1:p.Leu70Phe
ENST00000372779.8:c.297A>C	ENSP00000361865.4:p.Leu99Phe
ENST00000433473.7:c.210A>C	ENSP00000394863.3:p.Leu70Phe
ENST00000449045.6:c.125-2910A>C	ENSP00000392293.2:n.125-2910A>C
ENST00000526547.1:c.60A>C	ENSP00000436481.1:p.Leu20Phe
ENST00000527311.6:c.125-365A>C	ENSP00000436695.2:n.125-365A>C
ENST00000529905.5:c.210A>C	ENSP00000432053.1:p.Leu70Phe
ENST00000530704.5:c.210A>C	ENSP00000431655.1:p.Leu70Phe
NM_000310.3:c.210A>C , LRG_690t1:c.210A>C	NP_000301.1:p.Leu70Phe
NM_001142604.1:c.125-2910A>C	NP_001136076.1:n.125-2910A>C
XM_005271008.1:c.210A>C	XP_005271065.1:p.Leu70Phe
NM_001363695.1:c.210A>C	NP_001350624.1:p.Leu70Phe
NM_000310.4:c.210A>C MANE Select	NP_000301.1:p.Leu70Phe
NM_001142604.2:c.125-2910A>C	NP_001136076.1:n.125-2910A>C
NM_001363695.2:c.210A>C	NP_001350624.1:p.Leu70Phe