Canonical Allele Identifier: CA339845591

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539801T>G (hg19) ; chr1:g.40074129T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074129T>G , CM000663.2:g.40074129T>G	GRCh38
NC_000001.10:g.40539801T>G , CM000663.1:g.40539801T>G	GRCh37
NC_000001.9:g.40312388T>G	NCBI36
NG_009192.1:g.28342A>C , LRG_690:g.28342A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.850A>C	ENSP00000394863.4:p.Thr284Pro
ENST00000439754.6:c.781A>C	ENSP00000403207.2:p.Thr261Pro
ENST00000449045.7:c.544A>C	ENSP00000392293.2:p.Thr182Pro
ENST00000527311.7:c.622A>C	ENSP00000436695.3:p.Thr208Pro
ENST00000530076.6:c.196A>C	ENSP00000434007.1:p.Thr66Pro
ENST00000530704.6:c.*476A>C	ENSP00000431655.1:n.*476A>C
ENST00000641083.1:c.943A>C
ENST00000641236.1:n.1090A>C
ENST00000641319.1:c.*63A>C	ENSP00000493128.1:n.*63A>C
ENST00000641381.1:c.275A>C
ENST00000641471.1:c.940A>C	ENSP00000493146.1:p.Thr314Pro
ENST00000641691.1:c.*705A>C	ENSP00000492910.1:n.*705A>C
ENST00000641924.1:c.*282A>C	ENSP00000493063.1:n.*282A>C
ENST00000642050.2:c.853A>C MANE Select	ENSP00000493153.1:p.Thr285Pro
ENST00000372775.2:n.250A>C
ENST00000433473.7:c.853A>C	ENSP00000394863.3:p.Thr285Pro
ENST00000439754.5:c.466A>C	ENSP00000403207.1:p.Thr156Pro
ENST00000449045.6:c.544A>C	ENSP00000392293.2:p.Thr182Pro
ENST00000529905.5:c.853A>C	ENSP00000432053.1:p.Thr285Pro
ENST00000530076.5:c.196A>C	ENSP00000434007.1:p.Thr66Pro
ENST00000530704.5:c.*476A>C	ENSP00000431655.1:n.*476A>C
NM_000310.3:c.853A>C , LRG_690t1:c.853A>C	NP_000301.1:p.Thr285Pro
NM_001142604.1:c.544A>C	NP_001136076.1:p.Thr182Pro
XM_005271008.1:c.781A>C	XP_005271065.1:p.Thr261Pro
NM_001363695.1:c.781A>C	NP_001350624.1:p.Thr261Pro
NM_000310.4:c.853A>C MANE Select	NP_000301.1:p.Thr285Pro
NM_001142604.2:c.544A>C	NP_001136076.1:p.Thr182Pro
NM_001363695.2:c.781A>C	NP_001350624.1:p.Thr261Pro