Canonical Allele Identifier: CA339847873

Gene: PPT1

Linked Data

• ClinVar Variation Id: 1396426
• ClinVar RCV Id: RCV001919963
• dbSNP Id: rs2124474563
• MyVariant Identifiers: chr1:g.40546143A>G (hg19) ; chr1:g.40080471A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080471A>G , CM000663.2:g.40080471A>G	GRCh38
NC_000001.10:g.40546143A>G , CM000663.1:g.40546143A>G	GRCh37
NC_000001.9:g.40318730A>G	NCBI36
NG_009192.1:g.22000T>C , LRG_690:g.22000T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*389T>C	ENSP00000361865.5:n.*389T>C
ENST00000433473.8:c.550T>C	ENSP00000394863.4:p.Tyr184His
ENST00000439754.6:c.553T>C	ENSP00000403207.2:p.Tyr185His
ENST00000449045.7:c.244T>C	ENSP00000392293.2:p.Tyr82His
ENST00000527311.7:c.322T>C	ENSP00000436695.3:p.Tyr108His
ENST00000530076.6:c.-105T>C	ENSP00000434007.1:n.-105T>C
ENST00000530704.6:c.*176T>C	ENSP00000431655.1:n.*176T>C
ENST00000641083.1:c.531T>C
ENST00000641236.1:n.790T>C
ENST00000641319.1:c.553T>C	ENSP00000493128.1:p.Tyr185His
ENST00000641381.1:c.149-3558T>C
ENST00000641471.1:c.640T>C	ENSP00000493146.1:p.Tyr214His
ENST00000641691.1:c.*405T>C	ENSP00000492910.1:n.*405T>C
ENST00000641924.1:c.141T>C	ENSP00000493063.1:p.Asn47=
ENST00000642050.2:c.553T>C MANE Select	ENSP00000493153.1:p.Tyr185His
ENST00000372779.8:c.640T>C	ENSP00000361865.4:p.Tyr214His
ENST00000433473.7:c.553T>C	ENSP00000394863.3:p.Tyr185His
ENST00000439754.5:c.238T>C	ENSP00000403207.1:p.Tyr80His
ENST00000449045.6:c.244T>C	ENSP00000392293.2:p.Tyr82His
ENST00000527311.6:c.328T>C	ENSP00000436695.2:p.Tyr110His
ENST00000529905.5:c.553T>C	ENSP00000432053.1:p.Tyr185His
ENST00000530076.5:c.-105T>C	ENSP00000434007.1:n.-105T>C
ENST00000530704.5:c.*176T>C	ENSP00000431655.1:n.*176T>C
NM_000310.3:c.553T>C , LRG_690t1:c.553T>C	NP_000301.1:p.Tyr185His
NM_001142604.1:c.244T>C	NP_001136076.1:p.Tyr82His
XM_005271008.1:c.553T>C	XP_005271065.1:p.Tyr185His
NM_001363695.1:c.553T>C	NP_001350624.1:p.Tyr185His
NM_000310.4:c.553T>C MANE Select	NP_000301.1:p.Tyr185His
NM_001142604.2:c.244T>C	NP_001136076.1:p.Tyr82His
NM_001363695.2:c.553T>C	NP_001350624.1:p.Tyr185His