Canonical Allele Identifier: CA339847740

Gene: PPT1

Linked Data

• ClinVar Variation Id: 1691870
• ClinVar RCV Id: RCV002255246
• dbSNP Id: rs1648869873
• gnomAD v4: 1-40080441-A-G
• MyVariant Identifiers: chr1:g.40546113A>G (hg19) ; chr1:g.40080441A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080441A>G , CM000663.2:g.40080441A>G	GRCh38
NC_000001.10:g.40546113A>G , CM000663.1:g.40546113A>G	GRCh37
NC_000001.9:g.40318700A>G	NCBI36
NG_009192.1:g.22030T>C , LRG_690:g.22030T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.580T>C	ENSP00000394863.4:p.Tyr194His
ENST00000439754.6:c.583T>C	ENSP00000403207.2:p.Tyr195His
ENST00000449045.7:c.274T>C	ENSP00000392293.2:p.Tyr92His
ENST00000527311.7:c.352T>C	ENSP00000436695.3:p.Tyr118His
ENST00000530076.6:c.-75T>C	ENSP00000434007.1:n.-75T>C
ENST00000530704.6:c.*206T>C	ENSP00000431655.1:n.*206T>C
ENST00000641083.1:c.561T>C
ENST00000641236.1:n.820T>C
ENST00000641319.1:c.583T>C	ENSP00000493128.1:p.Tyr195His
ENST00000641381.1:c.149-3528T>C
ENST00000641471.1:c.670T>C	ENSP00000493146.1:p.Tyr224His
ENST00000641691.1:c.*435T>C	ENSP00000492910.1:n.*435T>C
ENST00000641924.1:c.*12T>C	ENSP00000493063.1:n.*12T>C
ENST00000642050.2:c.583T>C MANE Select	ENSP00000493153.1:p.Tyr195His
ENST00000372779.8:c.670T>C	ENSP00000361865.4:p.Tyr224His
ENST00000433473.7:c.583T>C	ENSP00000394863.3:p.Tyr195His
ENST00000439754.5:c.268T>C	ENSP00000403207.1:p.Tyr90His
ENST00000449045.6:c.274T>C	ENSP00000392293.2:p.Tyr92His
ENST00000527311.6:c.358T>C	ENSP00000436695.2:p.Tyr120His
ENST00000529905.5:c.583T>C	ENSP00000432053.1:p.Tyr195His
ENST00000530076.5:c.-75T>C	ENSP00000434007.1:n.-75T>C
ENST00000530704.5:c.*206T>C	ENSP00000431655.1:n.*206T>C
NM_000310.3:c.583T>C , LRG_690t1:c.583T>C	NP_000301.1:p.Tyr195His
NM_001142604.1:c.274T>C	NP_001136076.1:p.Tyr92His
XM_005271008.1:c.583T>C	XP_005271065.1:p.Tyr195His
NM_001363695.1:c.583T>C	NP_001350624.1:p.Tyr195His
NM_000310.4:c.583T>C MANE Select	NP_000301.1:p.Tyr195His
NM_001142604.2:c.274T>C	NP_001136076.1:p.Tyr92His
NM_001363695.2:c.583T>C	NP_001350624.1:p.Tyr195His