Canonical Allele Identifier: CA417321958

Gene: PPT1

Linked Data

• ClinVar Variation Id: 748017
• ClinVar RCV Id: RCV000924782
• dbSNP Id: rs1570448364
• MyVariant Identifiers: chr1:g.40539745T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074073T>C , CM000663.2:g.40074073T>C	GRCh38
NC_000001.10:g.40539745T>C , CM000663.1:g.40539745T>C	GRCh37
NC_000001.9:g.40312332T>C	NCBI36
NG_009192.1:g.28398A>G , LRG_690:g.28398A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.906A>G	ENSP00000394863.4:p.Pro302=
ENST00000439754.6:c.837A>G	ENSP00000403207.2:p.Pro279=
ENST00000449045.7:c.600A>G	ENSP00000392293.2:p.Pro200=
ENST00000530076.6:c.252A>G	ENSP00000434007.1:p.Pro84=
ENST00000530704.6:c.*532A>G	ENSP00000431655.1:n.*532A>G
ENST00000641083.1:c.999A>G
ENST00000641236.1:n.1146A>G
ENST00000641319.1:c.*119A>G	ENSP00000493128.1:n.*119A>G
ENST00000641381.1:c.331A>G
ENST00000641471.1:c.996A>G	ENSP00000493146.1:p.Pro332=
ENST00000641691.1:c.*761A>G	ENSP00000492910.1:n.*761A>G
ENST00000641924.1:c.*338A>G	ENSP00000493063.1:n.*338A>G
ENST00000642050.2:c.909A>G MANE Select	ENSP00000493153.1:p.Pro303=
ENST00000372775.2:n.306A>G
ENST00000433473.7:c.909A>G	ENSP00000394863.3:p.Pro303=
ENST00000439754.5:c.522A>G	ENSP00000403207.1:p.Pro174=
ENST00000449045.6:c.600A>G	ENSP00000392293.2:p.Pro200=
ENST00000529905.5:c.909A>G	ENSP00000432053.1:p.Pro303=
ENST00000530076.5:c.252A>G	ENSP00000434007.1:p.Pro84=
ENST00000530704.5:c.*532A>G	ENSP00000431655.1:n.*532A>G
NM_000310.3:c.909A>G , LRG_690t1:c.909A>G	NP_000301.1:p.Pro303=
NM_001142604.1:c.600A>G	NP_001136076.1:p.Pro200=
XM_005271008.1:c.837A>G	XP_005271065.1:p.Pro279=
NM_001363695.1:c.837A>G	NP_001350624.1:p.Pro279=
NM_000310.4:c.909A>G MANE Select	NP_000301.1:p.Pro303=
NM_001142604.2:c.600A>G	NP_001136076.1:p.Pro200=
NM_001363695.2:c.837A>G	NP_001350624.1:p.Pro279=