Canonical Allele Identifier: CA339847789

Gene: PPT1

Linked Data

• ClinVar Variation Id: 571523
• ClinVar RCV Id: RCV000692693
• dbSNP Id: rs1557708208
• MyVariant Identifiers: chr1:g.40546124T>G (hg19) ; chr1:g.40080452T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080452T>G , CM000663.2:g.40080452T>G	GRCh38
NC_000001.10:g.40546124T>G , CM000663.1:g.40546124T>G	GRCh37
NC_000001.9:g.40318711T>G	NCBI36
NG_009192.1:g.22019A>C , LRG_690:g.22019A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*408A>C	ENSP00000361865.5:n.*408A>C
ENST00000433473.8:c.569A>C	ENSP00000394863.4:p.Lys190Thr
ENST00000439754.6:c.572A>C	ENSP00000403207.2:p.Lys191Thr
ENST00000449045.7:c.263A>C	ENSP00000392293.2:p.Lys88Thr
ENST00000527311.7:c.341A>C	ENSP00000436695.3:p.Lys114Thr
ENST00000530076.6:c.-86A>C	ENSP00000434007.1:n.-86A>C
ENST00000530704.6:c.*195A>C	ENSP00000431655.1:n.*195A>C
ENST00000641083.1:c.550A>C
ENST00000641236.1:n.809A>C
ENST00000641319.1:c.572A>C	ENSP00000493128.1:p.Lys191Thr
ENST00000641381.1:c.149-3539A>C
ENST00000641471.1:c.659A>C	ENSP00000493146.1:p.Lys220Thr
ENST00000641691.1:c.*424A>C	ENSP00000492910.1:n.*424A>C
ENST00000641924.1:c.*1A>C	ENSP00000493063.1:n.*1A>C
ENST00000642050.2:c.572A>C MANE Select	ENSP00000493153.1:p.Lys191Thr
ENST00000372779.8:c.659A>C	ENSP00000361865.4:p.Lys220Thr
ENST00000433473.7:c.572A>C	ENSP00000394863.3:p.Lys191Thr
ENST00000439754.5:c.257A>C	ENSP00000403207.1:p.Lys86Thr
ENST00000449045.6:c.263A>C	ENSP00000392293.2:p.Lys88Thr
ENST00000527311.6:c.347A>C	ENSP00000436695.2:p.Lys116Thr
ENST00000529905.5:c.572A>C	ENSP00000432053.1:p.Lys191Thr
ENST00000530076.5:c.-86A>C	ENSP00000434007.1:n.-86A>C
ENST00000530704.5:c.*195A>C	ENSP00000431655.1:n.*195A>C
NM_000310.3:c.572A>C , LRG_690t1:c.572A>C	NP_000301.1:p.Lys191Thr
NM_001142604.1:c.263A>C	NP_001136076.1:p.Lys88Thr
XM_005271008.1:c.572A>C	XP_005271065.1:p.Lys191Thr
NM_001363695.1:c.572A>C	NP_001350624.1:p.Lys191Thr
NM_000310.4:c.572A>C MANE Select	NP_000301.1:p.Lys191Thr
NM_001142604.2:c.263A>C	NP_001136076.1:p.Lys88Thr
NM_001363695.2:c.572A>C	NP_001350624.1:p.Lys191Thr