Canonical Allele Identifier: CA339845603

Gene: PPT1

Linked Data

• ClinVar Variation Id: 862412
• ClinVar RCV Id: RCV001069130
• dbSNP Id: rs1648437826
• MyVariant Identifiers: chr1:g.40539804C>G (hg19) ; chr1:g.40074132C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074132C>G , CM000663.2:g.40074132C>G	GRCh38
NC_000001.10:g.40539804C>G , CM000663.1:g.40539804C>G	GRCh37
NC_000001.9:g.40312391C>G	NCBI36
NG_009192.1:g.28339G>C , LRG_690:g.28339G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.847G>C	ENSP00000394863.4:p.Ala283Pro
ENST00000439754.6:c.778G>C	ENSP00000403207.2:p.Ala260Pro
ENST00000449045.7:c.541G>C	ENSP00000392293.2:p.Ala181Pro
ENST00000527311.7:c.619G>C	ENSP00000436695.3:p.Ala207Pro
ENST00000530076.6:c.193G>C	ENSP00000434007.1:p.Ala65Pro
ENST00000530704.6:c.*473G>C	ENSP00000431655.1:n.*473G>C
ENST00000641083.1:c.940G>C
ENST00000641236.1:n.1087G>C
ENST00000641319.1:c.*60G>C	ENSP00000493128.1:n.*60G>C
ENST00000641381.1:c.272G>C
ENST00000641471.1:c.937G>C	ENSP00000493146.1:p.Ala313Pro
ENST00000641691.1:c.*702G>C	ENSP00000492910.1:n.*702G>C
ENST00000641924.1:c.*279G>C	ENSP00000493063.1:n.*279G>C
ENST00000642050.2:c.850G>C MANE Select	ENSP00000493153.1:p.Ala284Pro
ENST00000372775.2:n.247G>C
ENST00000433473.7:c.850G>C	ENSP00000394863.3:p.Ala284Pro
ENST00000439754.5:c.463G>C	ENSP00000403207.1:p.Ala155Pro
ENST00000449045.6:c.541G>C	ENSP00000392293.2:p.Ala181Pro
ENST00000529905.5:c.850G>C	ENSP00000432053.1:p.Ala284Pro
ENST00000530076.5:c.193G>C	ENSP00000434007.1:p.Ala65Pro
ENST00000530704.5:c.*473G>C	ENSP00000431655.1:n.*473G>C
NM_000310.3:c.850G>C , LRG_690t1:c.850G>C	NP_000301.1:p.Ala284Pro
NM_001142604.1:c.541G>C	NP_001136076.1:p.Ala181Pro
XM_005271008.1:c.778G>C	XP_005271065.1:p.Ala260Pro
NM_001363695.1:c.778G>C	NP_001350624.1:p.Ala260Pro
NM_000310.4:c.850G>C MANE Select	NP_000301.1:p.Ala284Pro
NM_001142604.2:c.541G>C	NP_001136076.1:p.Ala181Pro
NM_001363695.2:c.778G>C	NP_001350624.1:p.Ala260Pro