Canonical Allele Identifier: CA339845294

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539737C>A (hg19) ; chr1:g.40074065C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074065C>A , CM000663.2:g.40074065C>A	GRCh38
NC_000001.10:g.40539737C>A , CM000663.1:g.40539737C>A	GRCh37
NC_000001.9:g.40312324C>A	NCBI36
NG_009192.1:g.28406G>T , LRG_690:g.28406G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.914G>T	ENSP00000394863.4:p.Gly305Val
ENST00000439754.6:c.845G>T	ENSP00000403207.2:p.Gly282Val
ENST00000449045.7:c.608G>T	ENSP00000392293.2:p.Gly203Val
ENST00000530076.6:c.260G>T	ENSP00000434007.1:p.Gly87Val
ENST00000530704.6:c.*540G>T	ENSP00000431655.1:n.*540G>T
ENST00000641083.1:c.1007G>T
ENST00000641236.1:n.1154G>T
ENST00000641319.1:c.*127G>T	ENSP00000493128.1:n.*127G>T
ENST00000641381.1:c.339G>T
ENST00000641471.1:c.1004G>T	ENSP00000493146.1:p.Gly335Val
ENST00000641691.1:c.*769G>T	ENSP00000492910.1:n.*769G>T
ENST00000641924.1:c.*346G>T	ENSP00000493063.1:n.*346G>T
ENST00000642050.2:c.917G>T MANE Select	ENSP00000493153.1:p.Gly306Val
ENST00000372775.2:n.314G>T
ENST00000433473.7:c.917G>T	ENSP00000394863.3:p.Gly306Val
ENST00000439754.5:c.530G>T	ENSP00000403207.1:p.Gly177Val
ENST00000449045.6:c.608G>T	ENSP00000392293.2:p.Gly203Val
ENST00000529905.5:c.917G>T	ENSP00000432053.1:p.Gly306Val
ENST00000530076.5:c.260G>T	ENSP00000434007.1:p.Gly87Val
ENST00000530704.5:c.*540G>T	ENSP00000431655.1:n.*540G>T
NM_000310.3:c.917G>T , LRG_690t1:c.917G>T	NP_000301.1:p.Gly306Val
NM_001142604.1:c.608G>T	NP_001136076.1:p.Gly203Val
XM_005271008.1:c.845G>T	XP_005271065.1:p.Gly282Val
NM_001363695.1:c.845G>T	NP_001350624.1:p.Gly282Val
NM_000310.4:c.917G>T MANE Select	NP_000301.1:p.Gly306Val
NM_001142604.2:c.608G>T	NP_001136076.1:p.Gly203Val
NM_001363695.2:c.845G>T	NP_001350624.1:p.Gly282Val