Canonical Allele Identifier: CA339847814

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40546131G>C (hg19) ; chr1:g.40080459G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080459G>C , CM000663.2:g.40080459G>C	GRCh38
NC_000001.10:g.40546131G>C , CM000663.1:g.40546131G>C	GRCh37
NC_000001.9:g.40318718G>C	NCBI36
NG_009192.1:g.22012C>G , LRG_690:g.22012C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*401C>G	ENSP00000361865.5:n.*401C>G
ENST00000433473.8:c.562C>G	ENSP00000394863.4:p.Pro188Ala
ENST00000439754.6:c.565C>G	ENSP00000403207.2:p.Pro189Ala
ENST00000449045.7:c.256C>G	ENSP00000392293.2:p.Pro86Ala
ENST00000527311.7:c.334C>G	ENSP00000436695.3:p.Pro112Ala
ENST00000530076.6:c.-93C>G	ENSP00000434007.1:n.-93C>G
ENST00000530704.6:c.*188C>G	ENSP00000431655.1:n.*188C>G
ENST00000641083.1:c.543C>G
ENST00000641236.1:n.802C>G
ENST00000641319.1:c.565C>G	ENSP00000493128.1:p.Pro189Ala
ENST00000641381.1:c.149-3546C>G
ENST00000641471.1:c.652C>G	ENSP00000493146.1:p.Pro218Ala
ENST00000641691.1:c.*417C>G	ENSP00000492910.1:n.*417C>G
ENST00000641924.1:c.153C>G	ENSP00000493063.1:p.Thr51=
ENST00000642050.2:c.565C>G MANE Select	ENSP00000493153.1:p.Pro189Ala
ENST00000372779.8:c.652C>G	ENSP00000361865.4:p.Pro218Ala
ENST00000433473.7:c.565C>G	ENSP00000394863.3:p.Pro189Ala
ENST00000439754.5:c.250C>G	ENSP00000403207.1:p.Pro84Ala
ENST00000449045.6:c.256C>G	ENSP00000392293.2:p.Pro86Ala
ENST00000527311.6:c.340C>G	ENSP00000436695.2:p.Pro114Ala
ENST00000529905.5:c.565C>G	ENSP00000432053.1:p.Pro189Ala
ENST00000530076.5:c.-93C>G	ENSP00000434007.1:n.-93C>G
ENST00000530704.5:c.*188C>G	ENSP00000431655.1:n.*188C>G
NM_000310.3:c.565C>G , LRG_690t1:c.565C>G	NP_000301.1:p.Pro189Ala
NM_001142604.1:c.256C>G	NP_001136076.1:p.Pro86Ala
XM_005271008.1:c.565C>G	XP_005271065.1:p.Pro189Ala
NM_001363695.1:c.565C>G	NP_001350624.1:p.Pro189Ala
NM_000310.4:c.565C>G MANE Select	NP_000301.1:p.Pro189Ala
NM_001142604.2:c.256C>G	NP_001136076.1:p.Pro86Ala
NM_001363695.2:c.565C>G	NP_001350624.1:p.Pro189Ala