Canonical Allele Identifier: CA20998208

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40073353T>G , CM000663.2:g.40073353T>G	GRCh38
NC_000001.10:g.40539025T>G , CM000663.1:g.40539025T>G	GRCh37
NC_000001.9:g.40311612T>G	NCBI36
NG_009192.1:g.29118A>C , LRG_690:g.29118A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000310.4:c.*708A>C MANE Select	NP_000301.1:n.*708A>C
ENST00000642050.2:c.*708A>C MANE Select	ENSP00000493153.1:n.*708A>C
NM_000310.3:c.*708A>C , LRG_690t1:c.*708A>C	NP_000301.1:n.*708A>C
NM_001142604.1:c.*708A>C	NP_001136076.1:n.*708A>C
NM_001142604.2:c.*708A>C	NP_001136076.1:n.*708A>C
NM_001363695.1:c.*708A>C	NP_001350624.1:n.*708A>C
NM_001363695.2:c.*708A>C	NP_001350624.1:n.*708A>C
ENST00000433473.7:c.*708A>C	ENSP00000394863.3:n.*708A>C
ENST00000433473.8:c.*708A>C	ENSP00000394863.4:n.*708A>C
ENST00000439754.6:c.*708A>C	ENSP00000403207.2:n.*708A>C
ENST00000449045.7:c.*708A>C	ENSP00000392293.2:n.*708A>C
ENST00000529905.5:c.*493A>C	ENSP00000432053.1:n.*493A>C
ENST00000530076.6:c.*708A>C	ENSP00000434007.1:n.*708A>C
ENST00000530704.6:c.*1252A>C	ENSP00000431655.1:n.*1252A>C
ENST00000641083.1:c.1719A>C
ENST00000641236.1:n.1866A>C
ENST00000641319.1:c.*839A>C	ENSP00000493128.1:n.*839A>C
ENST00000641471.1:c.*708A>C	ENSP00000493146.1:n.*708A>C
ENST00000641691.1:c.*1481A>C	ENSP00000492910.1:n.*1481A>C
XM_005271008.1:c.*708A>C	XP_005271065.1:n.*708A>C