Canonical Allele Identifier: CA288996

Gene: PPT1

Linked Data

• ClinVar Variation Id: 130023
• ClinVar RCV Id: RCV000118048 ; RCV000675768 ; RCV001083646 ; RCV002312235
• dbSNP Id: rs72937434
• ExAC: 1:40539817 C / G
• gnomAD v2: 1-40539817-C-G
• gnomAD v3: 1-40074145-C-G
• gnomAD v4: 1-40074145-C-G
• MyVariant Identifiers: chr1:g.40539817C>G (hg19) ; chr1:g.40074145C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074145C>G , CM000663.2:g.40074145C>G	GRCh38
NC_000001.10:g.40539817C>G , CM000663.1:g.40539817C>G	GRCh37
NC_000001.9:g.40312404C>G	NCBI36
NG_009192.1:g.28326G>C , LRG_690:g.28326G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.834G>C	ENSP00000394863.4:p.Gln278His
ENST00000439754.6:c.765G>C	ENSP00000403207.2:p.Gln255His
ENST00000449045.7:c.528G>C	ENSP00000392293.2:p.Gln176His
ENST00000527311.7:c.606G>C	ENSP00000436695.3:p.Gln202His
ENST00000530076.6:c.180G>C	ENSP00000434007.1:p.Gln60His
ENST00000530704.6:c.*460G>C	ENSP00000431655.1:n.*460G>C
ENST00000641083.1:c.927G>C
ENST00000641236.1:n.1074G>C
ENST00000641319.1:c.*47G>C	ENSP00000493128.1:n.*47G>C
ENST00000641381.1:c.259G>C
ENST00000641471.1:c.924G>C	ENSP00000493146.1:p.Gln308His
ENST00000641691.1:c.*689G>C	ENSP00000492910.1:n.*689G>C
ENST00000641924.1:c.*266G>C	ENSP00000493063.1:n.*266G>C
ENST00000642050.2:c.837G>C MANE Select	ENSP00000493153.1:p.Gln279His
ENST00000372775.2:n.234G>C
ENST00000433473.7:c.837G>C	ENSP00000394863.3:p.Gln279His
ENST00000439754.5:c.450G>C	ENSP00000403207.1:p.Gln150His
ENST00000449045.6:c.528G>C	ENSP00000392293.2:p.Gln176His
ENST00000527311.6:c.612G>C	ENSP00000436695.2:p.Gln204His
ENST00000529905.5:c.837G>C	ENSP00000432053.1:p.Gln279His
ENST00000530076.5:c.180G>C	ENSP00000434007.1:p.Gln60His
ENST00000530704.5:c.*460G>C	ENSP00000431655.1:n.*460G>C
NM_000310.3:c.837G>C , LRG_690t1:c.837G>C	NP_000301.1:p.Gln279His
NM_001142604.1:c.528G>C	NP_001136076.1:p.Gln176His
XM_005271008.1:c.765G>C	XP_005271065.1:p.Gln255His
NM_001363695.1:c.765G>C	NP_001350624.1:p.Gln255His
NM_000310.4:c.837G>C MANE Select	NP_000301.1:p.Gln279His
NM_001142604.2:c.528G>C	NP_001136076.1:p.Gln176His
NM_001363695.2:c.765G>C	NP_001350624.1:p.Gln255His