Canonical Allele Identifier: CA417321954

Gene: PPT1

Linked Data

• dbSNP Id: rs1201454594
• gnomAD v2: 1-40539739-A-G
• gnomAD v4: 1-40074067-A-G
• MyVariant Identifiers: chr1:g.40539739A>G (hg19) ; chr1:g.40074067A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074067A>G , CM000663.2:g.40074067A>G	GRCh38
NC_000001.10:g.40539739A>G , CM000663.1:g.40539739A>G	GRCh37
NC_000001.9:g.40312326A>G	NCBI36
NG_009192.1:g.28404T>C , LRG_690:g.28404T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.912T>C	ENSP00000394863.4:p.Leu304=
ENST00000439754.6:c.843T>C	ENSP00000403207.2:p.Leu281=
ENST00000449045.7:c.606T>C	ENSP00000392293.2:p.Leu202=
ENST00000530076.6:c.258T>C	ENSP00000434007.1:p.Leu86=
ENST00000530704.6:c.*538T>C	ENSP00000431655.1:n.*538T>C
ENST00000641083.1:c.1005T>C
ENST00000641236.1:n.1152T>C
ENST00000641319.1:c.*125T>C	ENSP00000493128.1:n.*125T>C
ENST00000641381.1:c.337T>C
ENST00000641471.1:c.1002T>C	ENSP00000493146.1:p.Leu334=
ENST00000641691.1:c.*767T>C	ENSP00000492910.1:n.*767T>C
ENST00000641924.1:c.*344T>C	ENSP00000493063.1:n.*344T>C
ENST00000642050.2:c.915T>C MANE Select	ENSP00000493153.1:p.Leu305=
ENST00000372775.2:n.312T>C
ENST00000433473.7:c.915T>C	ENSP00000394863.3:p.Leu305=
ENST00000439754.5:c.528T>C	ENSP00000403207.1:p.Leu176=
ENST00000449045.6:c.606T>C	ENSP00000392293.2:p.Leu202=
ENST00000529905.5:c.915T>C	ENSP00000432053.1:p.Leu305=
ENST00000530076.5:c.258T>C	ENSP00000434007.1:p.Leu86=
ENST00000530704.5:c.*538T>C	ENSP00000431655.1:n.*538T>C
NM_000310.3:c.915T>C , LRG_690t1:c.915T>C	NP_000301.1:p.Leu305=
NM_001142604.1:c.606T>C	NP_001136076.1:p.Leu202=
XM_005271008.1:c.843T>C	XP_005271065.1:p.Leu281=
NM_001363695.1:c.843T>C	NP_001350624.1:p.Leu281=
NM_000310.4:c.915T>C MANE Select	NP_000301.1:p.Leu305=
NM_001142604.2:c.606T>C	NP_001136076.1:p.Leu202=
NM_001363695.2:c.843T>C	NP_001350624.1:p.Leu281=