Canonical Allele Identifier: CA339845691

Gene: PPT1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.826G>T	ENSP00000394863.4:p.Ala276Ser
ENST00000439754.6:c.757G>T	ENSP00000403207.2:p.Ala253Ser
ENST00000449045.7:c.520G>T	ENSP00000392293.2:p.Ala174Ser
ENST00000527311.7:c.598G>T	ENSP00000436695.3:p.Ala200Ser
ENST00000530076.6:c.172G>T	ENSP00000434007.1:p.Ala58Ser
ENST00000530704.6:c.*452G>T	ENSP00000431655.1:n.*452G>T
ENST00000641083.1:c.919G>T
ENST00000641236.1:n.1066G>T
ENST00000641319.1:c.*39G>T	ENSP00000493128.1:n.*39G>T
ENST00000641381.1:c.251G>T
ENST00000641471.1:c.916G>T	ENSP00000493146.1:p.Ala306Ser
ENST00000641691.1:c.*681G>T	ENSP00000492910.1:n.*681G>T
ENST00000641924.1:c.*258G>T	ENSP00000493063.1:n.*258G>T
ENST00000642050.2:c.829G>T MANE Select	ENSP00000493153.1:p.Ala277Ser
ENST00000372775.2:n.226G>T
ENST00000433473.7:c.829G>T	ENSP00000394863.3:p.Ala277Ser
ENST00000439754.5:c.442G>T	ENSP00000403207.1:p.Ala148Ser
ENST00000449045.6:c.520G>T	ENSP00000392293.2:p.Ala174Ser
ENST00000527311.6:c.604G>T	ENSP00000436695.2:p.Ala202Ser
ENST00000529905.5:c.829G>T	ENSP00000432053.1:p.Ala277Ser
ENST00000530076.5:c.172G>T	ENSP00000434007.1:p.Ala58Ser
ENST00000530704.5:c.*452G>T	ENSP00000431655.1:n.*452G>T
NM_000310.3:c.829G>T , LRG_690t1:c.829G>T	NP_000301.1:p.Ala277Ser
NM_001142604.1:c.520G>T	NP_001136076.1:p.Ala174Ser
XM_005271008.1:c.757G>T	XP_005271065.1:p.Ala253Ser
NM_001363695.1:c.757G>T	NP_001350624.1:p.Ala253Ser
NM_000310.4:c.829G>T MANE Select	NP_000301.1:p.Ala277Ser
NM_001142604.2:c.520G>T	NP_001136076.1:p.Ala174Ser
NM_001363695.2:c.757G>T	NP_001350624.1:p.Ala253Ser