Canonical Allele Identifier: CA339845695

Gene: PPT1

Linked Data

• COSMIC: COSM909379
• MyVariant Identifiers: chr1:g.40539825C>T (hg19) ; chr1:g.40074153C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074153C>T , CM000663.2:g.40074153C>T	GRCh38
NC_000001.10:g.40539825C>T , CM000663.1:g.40539825C>T	GRCh37
NC_000001.9:g.40312412C>T	NCBI36
NG_009192.1:g.28318G>A , LRG_690:g.28318G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.826G>A	ENSP00000394863.4:p.Ala276Thr
ENST00000439754.6:c.757G>A	ENSP00000403207.2:p.Ala253Thr
ENST00000449045.7:c.520G>A	ENSP00000392293.2:p.Ala174Thr
ENST00000527311.7:c.598G>A	ENSP00000436695.3:p.Ala200Thr
ENST00000530076.6:c.172G>A	ENSP00000434007.1:p.Ala58Thr
ENST00000530704.6:c.*452G>A	ENSP00000431655.1:n.*452G>A
ENST00000641083.1:c.919G>A
ENST00000641236.1:n.1066G>A
ENST00000641319.1:c.*39G>A	ENSP00000493128.1:n.*39G>A
ENST00000641381.1:c.251G>A
ENST00000641471.1:c.916G>A	ENSP00000493146.1:p.Ala306Thr
ENST00000641691.1:c.*681G>A	ENSP00000492910.1:n.*681G>A
ENST00000641924.1:c.*258G>A	ENSP00000493063.1:n.*258G>A
ENST00000642050.2:c.829G>A MANE Select	ENSP00000493153.1:p.Ala277Thr
ENST00000372775.2:n.226G>A
ENST00000433473.7:c.829G>A	ENSP00000394863.3:p.Ala277Thr
ENST00000439754.5:c.442G>A	ENSP00000403207.1:p.Ala148Thr
ENST00000449045.6:c.520G>A	ENSP00000392293.2:p.Ala174Thr
ENST00000527311.6:c.604G>A	ENSP00000436695.2:p.Ala202Thr
ENST00000529905.5:c.829G>A	ENSP00000432053.1:p.Ala277Thr
ENST00000530076.5:c.172G>A	ENSP00000434007.1:p.Ala58Thr
ENST00000530704.5:c.*452G>A	ENSP00000431655.1:n.*452G>A
NM_000310.3:c.829G>A , LRG_690t1:c.829G>A	NP_000301.1:p.Ala277Thr
NM_001142604.1:c.520G>A	NP_001136076.1:p.Ala174Thr
XM_005271008.1:c.757G>A	XP_005271065.1:p.Ala253Thr
NM_001363695.1:c.757G>A	NP_001350624.1:p.Ala253Thr
NM_000310.4:c.829G>A MANE Select	NP_000301.1:p.Ala277Thr
NM_001142604.2:c.520G>A	NP_001136076.1:p.Ala174Thr
NM_001363695.2:c.757G>A	NP_001350624.1:p.Ala253Thr