Canonical Allele Identifier: CA339845360

Gene: PPT1

Linked Data

• ClinVar Variation Id: 2006241
• ClinVar RCV Id: RCV002837650
• MyVariant Identifiers: chr1:g.40539755T>G (hg19) ; chr1:g.40074083T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074083T>G , CM000663.2:g.40074083T>G	GRCh38
NC_000001.10:g.40539755T>G , CM000663.1:g.40539755T>G	GRCh37
NC_000001.9:g.40312342T>G	NCBI36
NG_009192.1:g.28388A>C , LRG_690:g.28388A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.896A>C	ENSP00000394863.4:p.His299Pro
ENST00000439754.6:c.827A>C	ENSP00000403207.2:p.His276Pro
ENST00000449045.7:c.590A>C	ENSP00000392293.2:p.His197Pro
ENST00000530076.6:c.242A>C	ENSP00000434007.1:p.His81Pro
ENST00000530704.6:c.*522A>C	ENSP00000431655.1:n.*522A>C
ENST00000641083.1:c.989A>C
ENST00000641236.1:n.1136A>C
ENST00000641319.1:c.*109A>C	ENSP00000493128.1:n.*109A>C
ENST00000641381.1:c.321A>C
ENST00000641471.1:c.986A>C	ENSP00000493146.1:p.His329Pro
ENST00000641691.1:c.*751A>C	ENSP00000492910.1:n.*751A>C
ENST00000641924.1:c.*328A>C	ENSP00000493063.1:n.*328A>C
ENST00000642050.2:c.899A>C MANE Select	ENSP00000493153.1:p.His300Pro
ENST00000372775.2:n.296A>C
ENST00000433473.7:c.899A>C	ENSP00000394863.3:p.His300Pro
ENST00000439754.5:c.512A>C	ENSP00000403207.1:p.His171Pro
ENST00000449045.6:c.590A>C	ENSP00000392293.2:p.His197Pro
ENST00000529905.5:c.899A>C	ENSP00000432053.1:p.His300Pro
ENST00000530076.5:c.242A>C	ENSP00000434007.1:p.His81Pro
ENST00000530704.5:c.*522A>C	ENSP00000431655.1:n.*522A>C
NM_000310.3:c.899A>C , LRG_690t1:c.899A>C	NP_000301.1:p.His300Pro
NM_001142604.1:c.590A>C	NP_001136076.1:p.His197Pro
XM_005271008.1:c.827A>C	XP_005271065.1:p.His276Pro
NM_001363695.1:c.827A>C	NP_001350624.1:p.His276Pro
NM_000310.4:c.899A>C MANE Select	NP_000301.1:p.His300Pro
NM_001142604.2:c.590A>C	NP_001136076.1:p.His197Pro
NM_001363695.2:c.827A>C	NP_001350624.1:p.His276Pro