Canonical Allele Identifier: CA339846797

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40544287T>C (hg19) ; chr1:g.40078615T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078615T>C , CM000663.2:g.40078615T>C	GRCh38
NC_000001.10:g.40544287T>C , CM000663.1:g.40544287T>C	GRCh37
NC_000001.9:g.40316874T>C	NCBI36
NG_009192.1:g.23856A>G , LRG_690:g.23856A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.668A>G	ENSP00000394863.4:p.Lys223Arg
ENST00000439754.6:c.671A>G	ENSP00000403207.2:p.Lys224Arg
ENST00000449045.7:c.362A>G	ENSP00000392293.2:p.Lys121Arg
ENST00000527311.7:c.440A>G	ENSP00000436695.3:p.Lys147Arg
ENST00000530076.6:c.14A>G	ENSP00000434007.1:p.Lys5Arg
ENST00000530704.6:c.*294A>G	ENSP00000431655.1:n.*294A>G
ENST00000641083.1:c.649A>G
ENST00000641236.1:n.908A>G
ENST00000641319.1:c.671A>G	ENSP00000493128.1:p.Lys224Arg
ENST00000641381.1:c.149-1702A>G
ENST00000641471.1:c.758A>G	ENSP00000493146.1:p.Lys253Arg
ENST00000641691.1:c.*523A>G	ENSP00000492910.1:n.*523A>G
ENST00000641924.1:c.*100A>G	ENSP00000493063.1:n.*100A>G
ENST00000642050.2:c.671A>G MANE Select	ENSP00000493153.1:p.Lys224Arg
ENST00000372775.2:n.68A>G
ENST00000372779.8:c.758A>G	ENSP00000361865.4:p.Lys253Arg
ENST00000433473.7:c.671A>G	ENSP00000394863.3:p.Lys224Arg
ENST00000439754.5:c.356A>G	ENSP00000403207.1:p.Lys119Arg
ENST00000449045.6:c.362A>G	ENSP00000392293.2:p.Lys121Arg
ENST00000527311.6:c.446A>G	ENSP00000436695.2:p.Lys149Arg
ENST00000529905.5:c.671A>G	ENSP00000432053.1:p.Lys224Arg
ENST00000530076.5:c.14A>G	ENSP00000434007.1:p.Lys5Arg
ENST00000530704.5:c.*294A>G	ENSP00000431655.1:n.*294A>G
NM_000310.3:c.671A>G , LRG_690t1:c.671A>G	NP_000301.1:p.Lys224Arg
NM_001142604.1:c.362A>G	NP_001136076.1:p.Lys121Arg
XM_005271008.1:c.671A>G	XP_005271065.1:p.Lys224Arg
NM_001363695.1:c.671A>G	NP_001350624.1:p.Lys224Arg
NM_000310.4:c.671A>G MANE Select	NP_000301.1:p.Lys224Arg
NM_001142604.2:c.362A>G	NP_001136076.1:p.Lys121Arg
NM_001363695.2:c.671A>G	NP_001350624.1:p.Lys224Arg