Canonical Allele Identifier: CA339846668

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40544260T>G (hg19) ; chr1:g.40078588T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078588T>G , CM000663.2:g.40078588T>G	GRCh38
NC_000001.10:g.40544260T>G , CM000663.1:g.40544260T>G	GRCh37
NC_000001.9:g.40316847T>G	NCBI36
NG_009192.1:g.23883A>C , LRG_690:g.23883A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.695A>C	ENSP00000394863.4:p.Asp232Ala
ENST00000439754.6:c.698A>C	ENSP00000403207.2:p.Asp233Ala
ENST00000449045.7:c.389A>C	ENSP00000392293.2:p.Asp130Ala
ENST00000527311.7:c.467A>C	ENSP00000436695.3:p.Asp156Ala
ENST00000530076.6:c.41A>C	ENSP00000434007.1:p.Asp14Ala
ENST00000530704.6:c.*321A>C	ENSP00000431655.1:n.*321A>C
ENST00000641083.1:c.676A>C
ENST00000641236.1:n.935A>C
ENST00000641319.1:c.698A>C	ENSP00000493128.1:p.Asp233Ala
ENST00000641381.1:c.149-1675A>C
ENST00000641471.1:c.785A>C	ENSP00000493146.1:p.Asp262Ala
ENST00000641691.1:c.*550A>C	ENSP00000492910.1:n.*550A>C
ENST00000641924.1:c.*127A>C	ENSP00000493063.1:n.*127A>C
ENST00000642050.2:c.698A>C MANE Select	ENSP00000493153.1:p.Asp233Ala
ENST00000372775.2:n.95A>C
ENST00000372779.8:c.785A>C	ENSP00000361865.4:p.Asp262Ala
ENST00000433473.7:c.698A>C	ENSP00000394863.3:p.Asp233Ala
ENST00000439754.5:c.383A>C	ENSP00000403207.1:p.Asp128Ala
ENST00000449045.6:c.389A>C	ENSP00000392293.2:p.Asp130Ala
ENST00000527311.6:c.473A>C	ENSP00000436695.2:p.Asp158Ala
ENST00000529905.5:c.698A>C	ENSP00000432053.1:p.Asp233Ala
ENST00000530076.5:c.41A>C	ENSP00000434007.1:p.Asp14Ala
ENST00000530704.5:c.*321A>C	ENSP00000431655.1:n.*321A>C
NM_000310.3:c.698A>C , LRG_690t1:c.698A>C	NP_000301.1:p.Asp233Ala
NM_001142604.1:c.389A>C	NP_001136076.1:p.Asp130Ala
XM_005271008.1:c.698A>C	XP_005271065.1:p.Asp233Ala
NM_001363695.1:c.698A>C	NP_001350624.1:p.Asp233Ala
NM_000310.4:c.698A>C MANE Select	NP_000301.1:p.Asp233Ala
NM_001142604.2:c.389A>C	NP_001136076.1:p.Asp130Ala
NM_001363695.2:c.698A>C	NP_001350624.1:p.Asp233Ala