Canonical Allele Identifier: CA339845714

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539828T>G (hg19) ; chr1:g.40074156T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074156T>G , CM000663.2:g.40074156T>G	GRCh38
NC_000001.10:g.40539828T>G , CM000663.1:g.40539828T>G	GRCh37
NC_000001.9:g.40312415T>G	NCBI36
NG_009192.1:g.28315A>C , LRG_690:g.28315A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.823A>C	ENSP00000394863.4:p.Asn275His
ENST00000439754.6:c.754A>C	ENSP00000403207.2:p.Asn252His
ENST00000449045.7:c.517A>C	ENSP00000392293.2:p.Asn173His
ENST00000527311.7:c.595A>C	ENSP00000436695.3:p.Asn199His
ENST00000530076.6:c.169A>C	ENSP00000434007.1:p.Asn57His
ENST00000530704.6:c.*449A>C	ENSP00000431655.1:n.*449A>C
ENST00000641083.1:c.916A>C
ENST00000641236.1:n.1063A>C
ENST00000641319.1:c.*36A>C	ENSP00000493128.1:n.*36A>C
ENST00000641381.1:c.248A>C
ENST00000641471.1:c.913A>C	ENSP00000493146.1:p.Asn305His
ENST00000641691.1:c.*678A>C	ENSP00000492910.1:n.*678A>C
ENST00000641924.1:c.*255A>C	ENSP00000493063.1:n.*255A>C
ENST00000642050.2:c.826A>C MANE Select	ENSP00000493153.1:p.Asn276His
ENST00000372775.2:n.223A>C
ENST00000433473.7:c.826A>C	ENSP00000394863.3:p.Asn276His
ENST00000439754.5:c.439A>C	ENSP00000403207.1:p.Asn147His
ENST00000449045.6:c.517A>C	ENSP00000392293.2:p.Asn173His
ENST00000527311.6:c.601A>C	ENSP00000436695.2:p.Asn201His
ENST00000529905.5:c.826A>C	ENSP00000432053.1:p.Asn276His
ENST00000530076.5:c.169A>C	ENSP00000434007.1:p.Asn57His
ENST00000530704.5:c.*449A>C	ENSP00000431655.1:n.*449A>C
NM_000310.3:c.826A>C , LRG_690t1:c.826A>C	NP_000301.1:p.Asn276His
NM_001142604.1:c.517A>C	NP_001136076.1:p.Asn173His
XM_005271008.1:c.754A>C	XP_005271065.1:p.Asn252His
NM_001363695.1:c.754A>C	NP_001350624.1:p.Asn252His
NM_000310.4:c.826A>C MANE Select	NP_000301.1:p.Asn276His
NM_001142604.2:c.517A>C	NP_001136076.1:p.Asn173His
NM_001363695.2:c.754A>C	NP_001350624.1:p.Asn252His