Canonical Allele Identifier: CA339846639

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40544255T>G (hg19) ; chr1:g.40078583T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078583T>G , CM000663.2:g.40078583T>G	GRCh38
NC_000001.10:g.40544255T>G , CM000663.1:g.40544255T>G	GRCh37
NC_000001.9:g.40316842T>G	NCBI36
NG_009192.1:g.23888A>C , LRG_690:g.23888A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.700A>C	ENSP00000394863.4:p.Ile234Leu
ENST00000439754.6:c.703A>C	ENSP00000403207.2:p.Ile235Leu
ENST00000449045.7:c.394A>C	ENSP00000392293.2:p.Ile132Leu
ENST00000527311.7:c.472A>C	ENSP00000436695.3:p.Ile158Leu
ENST00000530076.6:c.46A>C	ENSP00000434007.1:p.Ile16Leu
ENST00000530704.6:c.*326A>C	ENSP00000431655.1:n.*326A>C
ENST00000641083.1:c.681A>C
ENST00000641236.1:n.940A>C
ENST00000641319.1:c.703A>C	ENSP00000493128.1:p.Ile235Leu
ENST00000641381.1:c.149-1670A>C
ENST00000641471.1:c.790A>C	ENSP00000493146.1:p.Ile264Leu
ENST00000641691.1:c.*555A>C	ENSP00000492910.1:n.*555A>C
ENST00000641924.1:c.*132A>C	ENSP00000493063.1:n.*132A>C
ENST00000642050.2:c.703A>C MANE Select	ENSP00000493153.1:p.Ile235Leu
ENST00000372775.2:n.100A>C
ENST00000372779.8:c.790A>C	ENSP00000361865.4:p.Ile264Leu
ENST00000433473.7:c.703A>C	ENSP00000394863.3:p.Ile235Leu
ENST00000439754.5:c.388A>C	ENSP00000403207.1:p.Ile130Leu
ENST00000449045.6:c.394A>C	ENSP00000392293.2:p.Ile132Leu
ENST00000527311.6:c.478A>C	ENSP00000436695.2:p.Ile160Leu
ENST00000529905.5:c.703A>C	ENSP00000432053.1:p.Ile235Leu
ENST00000530076.5:c.46A>C	ENSP00000434007.1:p.Ile16Leu
ENST00000530704.5:c.*326A>C	ENSP00000431655.1:n.*326A>C
NM_000310.3:c.703A>C , LRG_690t1:c.703A>C	NP_000301.1:p.Ile235Leu
NM_001142604.1:c.394A>C	NP_001136076.1:p.Ile132Leu
XM_005271008.1:c.703A>C	XP_005271065.1:p.Ile235Leu
NM_001363695.1:c.703A>C	NP_001350624.1:p.Ile235Leu
NM_000310.4:c.703A>C MANE Select	NP_000301.1:p.Ile235Leu
NM_001142604.2:c.394A>C	NP_001136076.1:p.Ile132Leu
NM_001363695.2:c.703A>C	NP_001350624.1:p.Ile235Leu