Canonical Allele Identifier: CA339846722

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40544272T>C (hg19) ; chr1:g.40078600T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078600T>C , CM000663.2:g.40078600T>C	GRCh38
NC_000001.10:g.40544272T>C , CM000663.1:g.40544272T>C	GRCh37
NC_000001.9:g.40316859T>C	NCBI36
NG_009192.1:g.23871A>G , LRG_690:g.23871A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.683A>G	ENSP00000394863.4:p.Lys228Arg
ENST00000439754.6:c.686A>G	ENSP00000403207.2:p.Lys229Arg
ENST00000449045.7:c.377A>G	ENSP00000392293.2:p.Lys126Arg
ENST00000527311.7:c.455A>G	ENSP00000436695.3:p.Lys152Arg
ENST00000530076.6:c.29A>G	ENSP00000434007.1:p.Lys10Arg
ENST00000530704.6:c.*309A>G	ENSP00000431655.1:n.*309A>G
ENST00000641083.1:c.664A>G
ENST00000641236.1:n.923A>G
ENST00000641319.1:c.686A>G	ENSP00000493128.1:p.Lys229Arg
ENST00000641381.1:c.149-1687A>G
ENST00000641471.1:c.773A>G	ENSP00000493146.1:p.Lys258Arg
ENST00000641691.1:c.*538A>G	ENSP00000492910.1:n.*538A>G
ENST00000641924.1:c.*115A>G	ENSP00000493063.1:n.*115A>G
ENST00000642050.2:c.686A>G MANE Select	ENSP00000493153.1:p.Lys229Arg
ENST00000372775.2:n.83A>G
ENST00000372779.8:c.773A>G	ENSP00000361865.4:p.Lys258Arg
ENST00000433473.7:c.686A>G	ENSP00000394863.3:p.Lys229Arg
ENST00000439754.5:c.371A>G	ENSP00000403207.1:p.Lys124Arg
ENST00000449045.6:c.377A>G	ENSP00000392293.2:p.Lys126Arg
ENST00000527311.6:c.461A>G	ENSP00000436695.2:p.Lys154Arg
ENST00000529905.5:c.686A>G	ENSP00000432053.1:p.Lys229Arg
ENST00000530076.5:c.29A>G	ENSP00000434007.1:p.Lys10Arg
ENST00000530704.5:c.*309A>G	ENSP00000431655.1:n.*309A>G
NM_000310.3:c.686A>G , LRG_690t1:c.686A>G	NP_000301.1:p.Lys229Arg
NM_001142604.1:c.377A>G	NP_001136076.1:p.Lys126Arg
XM_005271008.1:c.686A>G	XP_005271065.1:p.Lys229Arg
NM_001363695.1:c.686A>G	NP_001350624.1:p.Lys229Arg
NM_000310.4:c.686A>G MANE Select	NP_000301.1:p.Lys229Arg
NM_001142604.2:c.377A>G	NP_001136076.1:p.Lys126Arg
NM_001363695.2:c.686A>G	NP_001350624.1:p.Lys229Arg