Canonical Allele Identifier: CA339846870

Gene: PPT1

Linked Data

• gnomAD v4: 1-40078634-T-A
• MyVariant Identifiers: chr1:g.40544306T>A (hg19) ; chr1:g.40078634T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078634T>A , CM000663.2:g.40078634T>A	GRCh38
NC_000001.10:g.40544306T>A , CM000663.1:g.40544306T>A	GRCh37
NC_000001.9:g.40316893T>A	NCBI36
NG_009192.1:g.23837A>T , LRG_690:g.23837A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.649A>T	ENSP00000394863.4:p.Asn217Tyr
ENST00000439754.6:c.652A>T	ENSP00000403207.2:p.Asn218Tyr
ENST00000449045.7:c.343A>T	ENSP00000392293.2:p.Asn115Tyr
ENST00000527311.7:c.421A>T	ENSP00000436695.3:p.Asn141Tyr
ENST00000530076.6:c.-6A>T	ENSP00000434007.1:n.-6A>T
ENST00000530704.6:c.*275A>T	ENSP00000431655.1:n.*275A>T
ENST00000641083.1:c.630A>T
ENST00000641236.1:n.889A>T
ENST00000641319.1:c.652A>T	ENSP00000493128.1:p.Asn218Tyr
ENST00000641381.1:c.149-1721A>T
ENST00000641471.1:c.739A>T	ENSP00000493146.1:p.Asn247Tyr
ENST00000641691.1:c.*504A>T	ENSP00000492910.1:n.*504A>T
ENST00000641924.1:c.*81A>T	ENSP00000493063.1:n.*81A>T
ENST00000642050.2:c.652A>T MANE Select	ENSP00000493153.1:p.Asn218Tyr
ENST00000372775.2:n.49A>T
ENST00000372779.8:c.739A>T	ENSP00000361865.4:p.Asn247Tyr
ENST00000433473.7:c.652A>T	ENSP00000394863.3:p.Asn218Tyr
ENST00000439754.5:c.337A>T	ENSP00000403207.1:p.Asn113Tyr
ENST00000449045.6:c.343A>T	ENSP00000392293.2:p.Asn115Tyr
ENST00000527311.6:c.427A>T	ENSP00000436695.2:p.Asn143Tyr
ENST00000529905.5:c.652A>T	ENSP00000432053.1:p.Asn218Tyr
ENST00000530076.5:c.-6A>T	ENSP00000434007.1:n.-6A>T
ENST00000530704.5:c.*275A>T	ENSP00000431655.1:n.*275A>T
NM_000310.3:c.652A>T , LRG_690t1:c.652A>T	NP_000301.1:p.Asn218Tyr
NM_001142604.1:c.343A>T	NP_001136076.1:p.Asn115Tyr
XM_005271008.1:c.652A>T	XP_005271065.1:p.Asn218Tyr
NM_001363695.1:c.652A>T	NP_001350624.1:p.Asn218Tyr
NM_000310.4:c.652A>T MANE Select	NP_000301.1:p.Asn218Tyr
NM_001142604.2:c.343A>T	NP_001136076.1:p.Asn115Tyr
NM_001363695.2:c.652A>T	NP_001350624.1:p.Asn218Tyr