Canonical Allele Identifier: CA339846587

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40544242A>G (hg19) ; chr1:g.40078570A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078570A>G , CM000663.2:g.40078570A>G	GRCh38
NC_000001.10:g.40544242A>G , CM000663.1:g.40544242A>G	GRCh37
NC_000001.9:g.40316829A>G	NCBI36
NG_009192.1:g.23901T>C , LRG_690:g.23901T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.713T>C	ENSP00000394863.4:p.Val238Ala
ENST00000439754.6:c.716T>C	ENSP00000403207.2:p.Val239Ala
ENST00000449045.7:c.407T>C	ENSP00000392293.2:p.Val136Ala
ENST00000527311.7:c.485T>C	ENSP00000436695.3:p.Val162Ala
ENST00000530076.6:c.59T>C	ENSP00000434007.1:p.Val20Ala
ENST00000530704.6:c.*339T>C	ENSP00000431655.1:n.*339T>C
ENST00000641083.1:c.694T>C
ENST00000641236.1:n.953T>C
ENST00000641319.1:c.716T>C	ENSP00000493128.1:p.Val239Ala
ENST00000641381.1:c.149-1657T>C
ENST00000641471.1:c.803T>C	ENSP00000493146.1:p.Val268Ala
ENST00000641691.1:c.*568T>C	ENSP00000492910.1:n.*568T>C
ENST00000641924.1:c.*145T>C	ENSP00000493063.1:n.*145T>C
ENST00000642050.2:c.716T>C MANE Select	ENSP00000493153.1:p.Val239Ala
ENST00000372775.2:n.113T>C
ENST00000372779.8:c.803T>C	ENSP00000361865.4:p.Val268Ala
ENST00000433473.7:c.716T>C	ENSP00000394863.3:p.Val239Ala
ENST00000439754.5:c.401T>C	ENSP00000403207.1:p.Val134Ala
ENST00000449045.6:c.407T>C	ENSP00000392293.2:p.Val136Ala
ENST00000527311.6:c.491T>C	ENSP00000436695.2:p.Val164Ala
ENST00000529905.5:c.716T>C	ENSP00000432053.1:p.Val239Ala
ENST00000530076.5:c.59T>C	ENSP00000434007.1:p.Val20Ala
ENST00000530704.5:c.*339T>C	ENSP00000431655.1:n.*339T>C
NM_000310.3:c.716T>C , LRG_690t1:c.716T>C	NP_000301.1:p.Val239Ala
NM_001142604.1:c.407T>C	NP_001136076.1:p.Val136Ala
XM_005271008.1:c.716T>C	XP_005271065.1:p.Val239Ala
NM_001363695.1:c.716T>C	NP_001350624.1:p.Val239Ala
NM_000310.4:c.716T>C MANE Select	NP_000301.1:p.Val239Ala
NM_001142604.2:c.407T>C	NP_001136076.1:p.Val136Ala
NM_001363695.2:c.716T>C	NP_001350624.1:p.Val239Ala