Canonical Allele Identifier: CA339845743

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539834T>A (hg19) ; chr1:g.40074162T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074162T>A , CM000663.2:g.40074162T>A	GRCh38
NC_000001.10:g.40539834T>A , CM000663.1:g.40539834T>A	GRCh37
NC_000001.9:g.40312421T>A	NCBI36
NG_009192.1:g.28309A>T , LRG_690:g.28309A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000433473.8:c.817A>T	ENSP00000394863.4:p.Met273Leu
ENST00000439754.6:c.748A>T	ENSP00000403207.2:p.Met250Leu
ENST00000449045.7:c.511A>T	ENSP00000392293.2:p.Met171Leu
ENST00000527311.7:c.589A>T	ENSP00000436695.3:p.Met197Leu
ENST00000530076.6:c.163A>T	ENSP00000434007.1:p.Met55Leu
ENST00000530704.6:c.*443A>T	ENSP00000431655.1:n.*443A>T
ENST00000641083.1:c.910A>T
ENST00000641236.1:n.1057A>T
ENST00000641319.1:c.*30A>T	ENSP00000493128.1:n.*30A>T
ENST00000641381.1:c.242A>T
ENST00000641471.1:c.907A>T	ENSP00000493146.1:p.Met303Leu
ENST00000641691.1:c.*672A>T	ENSP00000492910.1:n.*672A>T
ENST00000641924.1:c.*249A>T	ENSP00000493063.1:n.*249A>T
ENST00000642050.2:c.820A>T MANE Select	ENSP00000493153.1:p.Met274Leu
ENST00000372775.2:n.217A>T
ENST00000433473.7:c.820A>T	ENSP00000394863.3:p.Met274Leu
ENST00000439754.5:c.433A>T	ENSP00000403207.1:p.Met145Leu
ENST00000449045.6:c.511A>T	ENSP00000392293.2:p.Met171Leu
ENST00000527311.6:c.595A>T	ENSP00000436695.2:p.Met199Leu
ENST00000529905.5:c.820A>T	ENSP00000432053.1:p.Met274Leu
ENST00000530076.5:c.163A>T	ENSP00000434007.1:p.Met55Leu
ENST00000530704.5:c.*443A>T	ENSP00000431655.1:n.*443A>T
NM_000310.3:c.820A>T , LRG_690t1:c.820A>T	NP_000301.1:p.Met274Leu
NM_001142604.1:c.511A>T	NP_001136076.1:p.Met171Leu
XM_005271008.1:c.748A>T	XP_005271065.1:p.Met250Leu
NM_001363695.1:c.748A>T	NP_001350624.1:p.Met250Leu
NM_000310.4:c.820A>T MANE Select	NP_000301.1:p.Met274Leu
NM_001142604.2:c.511A>T	NP_001136076.1:p.Met171Leu
NM_001363695.2:c.748A>T	NP_001350624.1:p.Met250Leu