Canonical Allele Identifier: CA339846898

Gene: PPT1

Linked Data

• ClinVar Variation Id: 493034
• ClinVar RCV Id: RCV000585383 ; RCV001277583
• dbSNP Id: rs1296750828
• gnomAD v2: 1-40544311-T-C
• gnomAD v3: 1-40078639-T-C
• gnomAD v4: 1-40078639-T-C
• MyVariant Identifiers: chr1:g.40544311T>C (hg19) ; chr1:g.40078639T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078639T>C , CM000663.2:g.40078639T>C	GRCh38
NC_000001.10:g.40544311T>C , CM000663.1:g.40544311T>C	GRCh37
NC_000001.9:g.40316898T>C	NCBI36
NG_009192.1:g.23832A>G , LRG_690:g.23832A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000433473.8:c.644A>G	ENSP00000394863.4:p.Lys215Arg
ENST00000439754.6:c.647A>G	ENSP00000403207.2:p.Lys216Arg
ENST00000449045.7:c.338A>G	ENSP00000392293.2:p.Lys113Arg
ENST00000527311.7:c.416A>G	ENSP00000436695.3:p.Lys139Arg
ENST00000530076.6:c.-11A>G	ENSP00000434007.1:n.-11A>G
ENST00000530704.6:c.*270A>G	ENSP00000431655.1:n.*270A>G
ENST00000641083.1:c.625A>G
ENST00000641236.1:n.884A>G
ENST00000641319.1:c.647A>G	ENSP00000493128.1:p.Lys216Arg
ENST00000641381.1:c.149-1726A>G
ENST00000641471.1:c.734A>G	ENSP00000493146.1:p.Lys245Arg
ENST00000641691.1:c.*499A>G	ENSP00000492910.1:n.*499A>G
ENST00000641924.1:c.*76A>G	ENSP00000493063.1:n.*76A>G
ENST00000642050.2:c.647A>G MANE Select	ENSP00000493153.1:p.Lys216Arg
ENST00000372775.2:n.44A>G
ENST00000372779.8:c.734A>G	ENSP00000361865.4:p.Lys245Arg
ENST00000433473.7:c.647A>G	ENSP00000394863.3:p.Lys216Arg
ENST00000439754.5:c.332A>G	ENSP00000403207.1:p.Lys111Arg
ENST00000449045.6:c.338A>G	ENSP00000392293.2:p.Lys113Arg
ENST00000527311.6:c.422A>G	ENSP00000436695.2:p.Lys141Arg
ENST00000529905.5:c.647A>G	ENSP00000432053.1:p.Lys216Arg
ENST00000530076.5:c.-11A>G	ENSP00000434007.1:n.-11A>G
ENST00000530704.5:c.*270A>G	ENSP00000431655.1:n.*270A>G
NM_000310.3:c.647A>G , LRG_690t1:c.647A>G	NP_000301.1:p.Lys216Arg
NM_001142604.1:c.338A>G	NP_001136076.1:p.Lys113Arg
XM_005271008.1:c.647A>G	XP_005271065.1:p.Lys216Arg
NM_001363695.1:c.647A>G	NP_001350624.1:p.Lys216Arg
NM_000310.4:c.647A>G MANE Select	NP_000301.1:p.Lys216Arg
NM_001142604.2:c.338A>G	NP_001136076.1:p.Lys113Arg
NM_001363695.2:c.647A>G	NP_001350624.1:p.Lys216Arg