Canonical Allele Identifier: CA339846953

Gene: PPT1

Linked Data

• gnomAD v4: 1-40078650-A-C
• MyVariant Identifiers: chr1:g.40544322A>C (hg19) ; chr1:g.40078650A>C (hg38)
• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078650A>C , CM000663.2:g.40078650A>C	GRCh38
NC_000001.10:g.40544322A>C , CM000663.1:g.40544322A>C	GRCh37
NC_000001.9:g.40316909A>C	NCBI36
NG_009192.1:g.23821T>G , LRG_690:g.23821T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000433473.8:c.633T>G	ENSP00000394863.4:p.Asn211Lys
ENST00000439754.6:c.636T>G	ENSP00000403207.2:p.Asn212Lys
ENST00000449045.7:c.327T>G	ENSP00000392293.2:p.Asn109Lys
ENST00000527311.7:c.405T>G	ENSP00000436695.3:p.Asn135Lys
ENST00000530076.6:c.-22T>G	ENSP00000434007.1:n.-22T>G
ENST00000530704.6:c.*259T>G	ENSP00000431655.1:n.*259T>G
ENST00000641083.1:c.614T>G
ENST00000641236.1:n.873T>G
ENST00000641319.1:c.636T>G	ENSP00000493128.1:p.Asn212Lys
ENST00000641381.1:c.149-1737T>G
ENST00000641471.1:c.723T>G	ENSP00000493146.1:p.Asn241Lys
ENST00000641691.1:c.*488T>G	ENSP00000492910.1:n.*488T>G
ENST00000641924.1:c.*65T>G	ENSP00000493063.1:n.*65T>G
ENST00000642050.2:c.636T>G MANE Select	ENSP00000493153.1:p.Asn212Lys
ENST00000372775.2:n.33T>G
ENST00000372779.8:c.723T>G	ENSP00000361865.4:p.Asn241Lys
ENST00000433473.7:c.636T>G	ENSP00000394863.3:p.Asn212Lys
ENST00000439754.5:c.321T>G	ENSP00000403207.1:p.Asn107Lys
ENST00000449045.6:c.327T>G	ENSP00000392293.2:p.Asn109Lys
ENST00000527311.6:c.411T>G	ENSP00000436695.2:p.Asn137Lys
ENST00000529905.5:c.636T>G	ENSP00000432053.1:p.Asn212Lys
ENST00000530076.5:c.-22T>G	ENSP00000434007.1:n.-22T>G
ENST00000530704.5:c.*259T>G	ENSP00000431655.1:n.*259T>G
NM_000310.3:c.636T>G , LRG_690t1:c.636T>G	NP_000301.1:p.Asn212Lys
NM_001142604.1:c.327T>G	NP_001136076.1:p.Asn109Lys
XM_005271008.1:c.636T>G	XP_005271065.1:p.Asn212Lys
NM_001363695.1:c.636T>G	NP_001350624.1:p.Asn212Lys
NM_000310.4:c.636T>G MANE Select	NP_000301.1:p.Asn212Lys
NM_001142604.2:c.327T>G	NP_001136076.1:p.Asn109Lys
NM_001363695.2:c.636T>G	NP_001350624.1:p.Asn212Lys