Canonical Allele Identifier: CA339845321

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539747G>C (hg19) ; chr1:g.40074075G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074075G>C , CM000663.2:g.40074075G>C	GRCh38
NC_000001.10:g.40539747G>C , CM000663.1:g.40539747G>C	GRCh37
NC_000001.9:g.40312334G>C	NCBI36
NG_009192.1:g.28396C>G , LRG_690:g.28396C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.904C>G	ENSP00000394863.4:p.Pro302Ala
ENST00000439754.6:c.835C>G	ENSP00000403207.2:p.Pro279Ala
ENST00000449045.7:c.598C>G	ENSP00000392293.2:p.Pro200Ala
ENST00000530076.6:c.250C>G	ENSP00000434007.1:p.Pro84Ala
ENST00000530704.6:c.*530C>G	ENSP00000431655.1:n.*530C>G
ENST00000641083.1:c.997C>G
ENST00000641236.1:n.1144C>G
ENST00000641319.1:c.*117C>G	ENSP00000493128.1:n.*117C>G
ENST00000641381.1:c.329C>G
ENST00000641471.1:c.994C>G	ENSP00000493146.1:p.Pro332Ala
ENST00000641691.1:c.*759C>G	ENSP00000492910.1:n.*759C>G
ENST00000641924.1:c.*336C>G	ENSP00000493063.1:n.*336C>G
ENST00000642050.2:c.907C>G MANE Select	ENSP00000493153.1:p.Pro303Ala
ENST00000372775.2:n.304C>G
ENST00000433473.7:c.907C>G	ENSP00000394863.3:p.Pro303Ala
ENST00000439754.5:c.520C>G	ENSP00000403207.1:p.Pro174Ala
ENST00000449045.6:c.598C>G	ENSP00000392293.2:p.Pro200Ala
ENST00000529905.5:c.907C>G	ENSP00000432053.1:p.Pro303Ala
ENST00000530076.5:c.250C>G	ENSP00000434007.1:p.Pro84Ala
ENST00000530704.5:c.*530C>G	ENSP00000431655.1:n.*530C>G
NM_000310.3:c.907C>G , LRG_690t1:c.907C>G	NP_000301.1:p.Pro303Ala
NM_001142604.1:c.598C>G	NP_001136076.1:p.Pro200Ala
XM_005271008.1:c.835C>G	XP_005271065.1:p.Pro279Ala
NM_001363695.1:c.835C>G	NP_001350624.1:p.Pro279Ala
NM_000310.4:c.907C>G MANE Select	NP_000301.1:p.Pro303Ala
NM_001142604.2:c.598C>G	NP_001136076.1:p.Pro200Ala
NM_001363695.2:c.835C>G	NP_001350624.1:p.Pro279Ala