Canonical Allele Identifier: CA339847892

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40546148G>C (hg19) ; chr1:g.40080476G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080476G>C , CM000663.2:g.40080476G>C	GRCh38
NC_000001.10:g.40546148G>C , CM000663.1:g.40546148G>C	GRCh37
NC_000001.9:g.40318735G>C	NCBI36
NG_009192.1:g.21995C>G , LRG_690:g.21995C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*384C>G	ENSP00000361865.5:n.*384C>G
ENST00000433473.8:c.545C>G	ENSP00000394863.4:p.Ala182Gly
ENST00000439754.6:c.548C>G	ENSP00000403207.2:p.Ala183Gly
ENST00000449045.7:c.239C>G	ENSP00000392293.2:p.Ala80Gly
ENST00000527311.7:c.317C>G	ENSP00000436695.3:p.Ala106Gly
ENST00000530076.6:c.-110C>G	ENSP00000434007.1:n.-110C>G
ENST00000530704.6:c.*171C>G	ENSP00000431655.1:n.*171C>G
ENST00000641083.1:c.526C>G
ENST00000641236.1:n.785C>G
ENST00000641319.1:c.548C>G	ENSP00000493128.1:p.Ala183Gly
ENST00000641381.1:c.149-3563C>G
ENST00000641471.1:c.635C>G	ENSP00000493146.1:p.Ala212Gly
ENST00000641691.1:c.*400C>G	ENSP00000492910.1:n.*400C>G
ENST00000641924.1:c.136C>G	ENSP00000493063.1:p.Pro46Ala
ENST00000642050.2:c.548C>G MANE Select	ENSP00000493153.1:p.Ala183Gly
ENST00000372779.8:c.635C>G	ENSP00000361865.4:p.Ala212Gly
ENST00000433473.7:c.548C>G	ENSP00000394863.3:p.Ala183Gly
ENST00000439754.5:c.233C>G	ENSP00000403207.1:p.Ala78Gly
ENST00000449045.6:c.239C>G	ENSP00000392293.2:p.Ala80Gly
ENST00000527311.6:c.323C>G	ENSP00000436695.2:p.Ala108Gly
ENST00000529905.5:c.548C>G	ENSP00000432053.1:p.Ala183Gly
ENST00000530076.5:c.-110C>G	ENSP00000434007.1:n.-110C>G
ENST00000530704.5:c.*171C>G	ENSP00000431655.1:n.*171C>G
NM_000310.3:c.548C>G , LRG_690t1:c.548C>G	NP_000301.1:p.Ala183Gly
NM_001142604.1:c.239C>G	NP_001136076.1:p.Ala80Gly
XM_005271008.1:c.548C>G	XP_005271065.1:p.Ala183Gly
NM_001363695.1:c.548C>G	NP_001350624.1:p.Ala183Gly
NM_000310.4:c.548C>G MANE Select	NP_000301.1:p.Ala183Gly
NM_001142604.2:c.239C>G	NP_001136076.1:p.Ala80Gly
NM_001363695.2:c.548C>G	NP_001350624.1:p.Ala183Gly