Canonical Allele Identifier: CA339846912

Gene: PPT1

Linked Data

• ClinVar Variation Id: 623681
• ClinVar RCV Id: RCV000761650
• dbSNP Id: rs1557707259
• MyVariant Identifiers: chr1:g.40544314T>C (hg19) ; chr1:g.40078642T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078642T>C , CM000663.2:g.40078642T>C	GRCh38
NC_000001.10:g.40544314T>C , CM000663.1:g.40544314T>C	GRCh37
NC_000001.9:g.40316901T>C	NCBI36
NG_009192.1:g.23829A>G , LRG_690:g.23829A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000433473.8:c.641A>G	ENSP00000394863.4:p.Tyr214Cys
ENST00000439754.6:c.644A>G	ENSP00000403207.2:p.Tyr215Cys
ENST00000449045.7:c.335A>G	ENSP00000392293.2:p.Tyr112Cys
ENST00000527311.7:c.413A>G	ENSP00000436695.3:p.Tyr138Cys
ENST00000530076.6:c.-14A>G	ENSP00000434007.1:n.-14A>G
ENST00000530704.6:c.*267A>G	ENSP00000431655.1:n.*267A>G
ENST00000641083.1:c.622A>G
ENST00000641236.1:n.881A>G
ENST00000641319.1:c.644A>G	ENSP00000493128.1:p.Tyr215Cys
ENST00000641381.1:c.149-1729A>G
ENST00000641471.1:c.731A>G	ENSP00000493146.1:p.Tyr244Cys
ENST00000641691.1:c.*496A>G	ENSP00000492910.1:n.*496A>G
ENST00000641924.1:c.*73A>G	ENSP00000493063.1:n.*73A>G
ENST00000642050.2:c.644A>G MANE Select	ENSP00000493153.1:p.Tyr215Cys
ENST00000372775.2:n.41A>G
ENST00000372779.8:c.731A>G	ENSP00000361865.4:p.Tyr244Cys
ENST00000433473.7:c.644A>G	ENSP00000394863.3:p.Tyr215Cys
ENST00000439754.5:c.329A>G	ENSP00000403207.1:p.Tyr110Cys
ENST00000449045.6:c.335A>G	ENSP00000392293.2:p.Tyr112Cys
ENST00000527311.6:c.419A>G	ENSP00000436695.2:p.Tyr140Cys
ENST00000529905.5:c.644A>G	ENSP00000432053.1:p.Tyr215Cys
ENST00000530076.5:c.-14A>G	ENSP00000434007.1:n.-14A>G
ENST00000530704.5:c.*267A>G	ENSP00000431655.1:n.*267A>G
NM_000310.3:c.644A>G , LRG_690t1:c.644A>G	NP_000301.1:p.Tyr215Cys
NM_001142604.1:c.335A>G	NP_001136076.1:p.Tyr112Cys
XM_005271008.1:c.644A>G	XP_005271065.1:p.Tyr215Cys
NM_001363695.1:c.644A>G	NP_001350624.1:p.Tyr215Cys
NM_000310.4:c.644A>G MANE Select	NP_000301.1:p.Tyr215Cys
NM_001142604.2:c.335A>G	NP_001136076.1:p.Tyr112Cys
NM_001363695.2:c.644A>G	NP_001350624.1:p.Tyr215Cys