Canonical Allele Identifier: CA339845697

Gene: PPT1

Linked Data

• gnomAD v4: 1-40074154-A-C
• MyVariant Identifiers: chr1:g.40539826A>C (hg19) ; chr1:g.40074154A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074154A>C , CM000663.2:g.40074154A>C	GRCh38
NC_000001.10:g.40539826A>C , CM000663.1:g.40539826A>C	GRCh37
NC_000001.9:g.40312413A>C	NCBI36
NG_009192.1:g.28317T>G , LRG_690:g.28317T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.825T>G	ENSP00000394863.4:p.Asn275Lys
ENST00000439754.6:c.756T>G	ENSP00000403207.2:p.Asn252Lys
ENST00000449045.7:c.519T>G	ENSP00000392293.2:p.Asn173Lys
ENST00000527311.7:c.597T>G	ENSP00000436695.3:p.Asn199Lys
ENST00000530076.6:c.171T>G	ENSP00000434007.1:p.Asn57Lys
ENST00000530704.6:c.*451T>G	ENSP00000431655.1:n.*451T>G
ENST00000641083.1:c.918T>G
ENST00000641236.1:n.1065T>G
ENST00000641319.1:c.*38T>G	ENSP00000493128.1:n.*38T>G
ENST00000641381.1:c.250T>G
ENST00000641471.1:c.915T>G	ENSP00000493146.1:p.Asn305Lys
ENST00000641691.1:c.*680T>G	ENSP00000492910.1:n.*680T>G
ENST00000641924.1:c.*257T>G	ENSP00000493063.1:n.*257T>G
ENST00000642050.2:c.828T>G MANE Select	ENSP00000493153.1:p.Asn276Lys
ENST00000372775.2:n.225T>G
ENST00000433473.7:c.828T>G	ENSP00000394863.3:p.Asn276Lys
ENST00000439754.5:c.441T>G	ENSP00000403207.1:p.Asn147Lys
ENST00000449045.6:c.519T>G	ENSP00000392293.2:p.Asn173Lys
ENST00000527311.6:c.603T>G	ENSP00000436695.2:p.Asn201Lys
ENST00000529905.5:c.828T>G	ENSP00000432053.1:p.Asn276Lys
ENST00000530076.5:c.171T>G	ENSP00000434007.1:p.Asn57Lys
ENST00000530704.5:c.*451T>G	ENSP00000431655.1:n.*451T>G
NM_000310.3:c.828T>G , LRG_690t1:c.828T>G	NP_000301.1:p.Asn276Lys
NM_001142604.1:c.519T>G	NP_001136076.1:p.Asn173Lys
XM_005271008.1:c.756T>G	XP_005271065.1:p.Asn252Lys
NM_001363695.1:c.756T>G	NP_001350624.1:p.Asn252Lys
NM_000310.4:c.828T>G MANE Select	NP_000301.1:p.Asn276Lys
NM_001142604.2:c.519T>G	NP_001136076.1:p.Asn173Lys
NM_001363695.2:c.756T>G	NP_001350624.1:p.Asn252Lys