Canonical Allele Identifier: CA339845469

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539776G>C (hg19) ; chr1:g.40074104G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074104G>C , CM000663.2:g.40074104G>C	GRCh38
NC_000001.10:g.40539776G>C , CM000663.1:g.40539776G>C	GRCh37
NC_000001.9:g.40312363G>C	NCBI36
NG_009192.1:g.28367C>G , LRG_690:g.28367C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.875C>G	ENSP00000394863.4:p.Ser292Cys
ENST00000439754.6:c.806C>G	ENSP00000403207.2:p.Ser269Cys
ENST00000449045.7:c.569C>G	ENSP00000392293.2:p.Ser190Cys
ENST00000530076.6:c.221C>G	ENSP00000434007.1:p.Ser74Cys
ENST00000530704.6:c.*501C>G	ENSP00000431655.1:n.*501C>G
ENST00000641083.1:c.968C>G
ENST00000641236.1:n.1115C>G
ENST00000641319.1:c.*88C>G	ENSP00000493128.1:n.*88C>G
ENST00000641381.1:c.300C>G
ENST00000641471.1:c.965C>G	ENSP00000493146.1:p.Ser322Cys
ENST00000641691.1:c.*730C>G	ENSP00000492910.1:n.*730C>G
ENST00000641924.1:c.*307C>G	ENSP00000493063.1:n.*307C>G
ENST00000642050.2:c.878C>G MANE Select	ENSP00000493153.1:p.Ser293Cys
ENST00000372775.2:n.275C>G
ENST00000433473.7:c.878C>G	ENSP00000394863.3:p.Ser293Cys
ENST00000439754.5:c.491C>G	ENSP00000403207.1:p.Ser164Cys
ENST00000449045.6:c.569C>G	ENSP00000392293.2:p.Ser190Cys
ENST00000529905.5:c.878C>G	ENSP00000432053.1:p.Ser293Cys
ENST00000530076.5:c.221C>G	ENSP00000434007.1:p.Ser74Cys
ENST00000530704.5:c.*501C>G	ENSP00000431655.1:n.*501C>G
NM_000310.3:c.878C>G , LRG_690t1:c.878C>G	NP_000301.1:p.Ser293Cys
NM_001142604.1:c.569C>G	NP_001136076.1:p.Ser190Cys
XM_005271008.1:c.806C>G	XP_005271065.1:p.Ser269Cys
NM_001363695.1:c.806C>G	NP_001350624.1:p.Ser269Cys
NM_000310.4:c.878C>G MANE Select	NP_000301.1:p.Ser293Cys
NM_001142604.2:c.569C>G	NP_001136076.1:p.Ser190Cys
NM_001363695.2:c.806C>G	NP_001350624.1:p.Ser269Cys