Canonical Allele Identifier: CA339847626

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40546089C>G (hg19) ; chr1:g.40080417C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080417C>G , CM000663.2:g.40080417C>G	GRCh38
NC_000001.10:g.40546089C>G , CM000663.1:g.40546089C>G	GRCh37
NC_000001.9:g.40318676C>G	NCBI36
NG_009192.1:g.22054G>C , LRG_690:g.22054G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.604G>C	ENSP00000394863.4:p.Ala202Pro
ENST00000439754.6:c.607G>C	ENSP00000403207.2:p.Ala203Pro
ENST00000449045.7:c.298G>C	ENSP00000392293.2:p.Ala100Pro
ENST00000527311.7:c.376G>C	ENSP00000436695.3:p.Ala126Pro
ENST00000530076.6:c.-51G>C	ENSP00000434007.1:n.-51G>C
ENST00000530704.6:c.*230G>C	ENSP00000431655.1:n.*230G>C
ENST00000641083.1:c.585G>C
ENST00000641236.1:n.844G>C
ENST00000641319.1:c.607G>C	ENSP00000493128.1:p.Ala203Pro
ENST00000641381.1:c.149-3504G>C
ENST00000641471.1:c.694G>C	ENSP00000493146.1:p.Ala232Pro
ENST00000641691.1:c.*459G>C	ENSP00000492910.1:n.*459G>C
ENST00000641924.1:c.*36G>C	ENSP00000493063.1:n.*36G>C
ENST00000642050.2:c.607G>C MANE Select	ENSP00000493153.1:p.Ala203Pro
ENST00000372779.8:c.694G>C	ENSP00000361865.4:p.Ala232Pro
ENST00000433473.7:c.607G>C	ENSP00000394863.3:p.Ala203Pro
ENST00000439754.5:c.292G>C	ENSP00000403207.1:p.Ala98Pro
ENST00000449045.6:c.298G>C	ENSP00000392293.2:p.Ala100Pro
ENST00000527311.6:c.382G>C	ENSP00000436695.2:p.Ala128Pro
ENST00000529905.5:c.607G>C	ENSP00000432053.1:p.Ala203Pro
ENST00000530076.5:c.-51G>C	ENSP00000434007.1:n.-51G>C
ENST00000530704.5:c.*230G>C	ENSP00000431655.1:n.*230G>C
NM_000310.3:c.607G>C , LRG_690t1:c.607G>C	NP_000301.1:p.Ala203Pro
NM_001142604.1:c.298G>C	NP_001136076.1:p.Ala100Pro
XM_005271008.1:c.607G>C	XP_005271065.1:p.Ala203Pro
NM_001363695.1:c.607G>C	NP_001350624.1:p.Ala203Pro
NM_000310.4:c.607G>C MANE Select	NP_000301.1:p.Ala203Pro
NM_001142604.2:c.298G>C	NP_001136076.1:p.Ala100Pro
NM_001363695.2:c.607G>C	NP_001350624.1:p.Ala203Pro