Canonical Allele Identifier: CA339846602

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40544246G>C (hg19) ; chr1:g.40078574G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078574G>C , CM000663.2:g.40078574G>C	GRCh38
NC_000001.10:g.40544246G>C , CM000663.1:g.40544246G>C	GRCh37
NC_000001.9:g.40316833G>C	NCBI36
NG_009192.1:g.23897C>G , LRG_690:g.23897C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.709C>G	ENSP00000394863.4:p.Pro237Ala
ENST00000439754.6:c.712C>G	ENSP00000403207.2:p.Pro238Ala
ENST00000449045.7:c.403C>G	ENSP00000392293.2:p.Pro135Ala
ENST00000527311.7:c.481C>G	ENSP00000436695.3:p.Pro161Ala
ENST00000530076.6:c.55C>G	ENSP00000434007.1:p.Pro19Ala
ENST00000530704.6:c.*335C>G	ENSP00000431655.1:n.*335C>G
ENST00000641083.1:c.690C>G
ENST00000641236.1:n.949C>G
ENST00000641319.1:c.712C>G	ENSP00000493128.1:p.Pro238Ala
ENST00000641381.1:c.149-1661C>G
ENST00000641471.1:c.799C>G	ENSP00000493146.1:p.Pro267Ala
ENST00000641691.1:c.*564C>G	ENSP00000492910.1:n.*564C>G
ENST00000641924.1:c.*141C>G	ENSP00000493063.1:n.*141C>G
ENST00000642050.2:c.712C>G MANE Select	ENSP00000493153.1:p.Pro238Ala
ENST00000372775.2:n.109C>G
ENST00000372779.8:c.799C>G	ENSP00000361865.4:p.Pro267Ala
ENST00000433473.7:c.712C>G	ENSP00000394863.3:p.Pro238Ala
ENST00000439754.5:c.397C>G	ENSP00000403207.1:p.Pro133Ala
ENST00000449045.6:c.403C>G	ENSP00000392293.2:p.Pro135Ala
ENST00000527311.6:c.487C>G	ENSP00000436695.2:p.Pro163Ala
ENST00000529905.5:c.712C>G	ENSP00000432053.1:p.Pro238Ala
ENST00000530076.5:c.55C>G	ENSP00000434007.1:p.Pro19Ala
ENST00000530704.5:c.*335C>G	ENSP00000431655.1:n.*335C>G
NM_000310.3:c.712C>G , LRG_690t1:c.712C>G	NP_000301.1:p.Pro238Ala
NM_001142604.1:c.403C>G	NP_001136076.1:p.Pro135Ala
XM_005271008.1:c.712C>G	XP_005271065.1:p.Pro238Ala
NM_001363695.1:c.712C>G	NP_001350624.1:p.Pro238Ala
NM_000310.4:c.712C>G MANE Select	NP_000301.1:p.Pro238Ala
NM_001142604.2:c.403C>G	NP_001136076.1:p.Pro135Ala
NM_001363695.2:c.712C>G	NP_001350624.1:p.Pro238Ala