Canonical Allele Identifier: CA316915

Gene: PPT1

Linked Data

• ClinVar Variation Id: 206638
• ClinVar RCV Id: RCV000188704 ; RCV000514922 ; RCV001080532 ; RCV002314744
• dbSNP Id: rs572153728
• ExAC: 1:40546065 T / C
• gnomAD v2: 1-40546065-T-C
• gnomAD v3: 1-40080393-T-C
• gnomAD v4: 1-40080393-T-C
• MyVariant Identifiers: chr1:g.40546065T>C (hg19) ; chr1:g.40080393T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080393T>C , CM000663.2:g.40080393T>C	GRCh38
NC_000001.10:g.40546065T>C , CM000663.1:g.40546065T>C	GRCh37
NC_000001.9:g.40318652T>C	NCBI36
NG_009192.1:g.22078A>G , LRG_690:g.22078A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.624+4A>G	ENSP00000394863.4:n.624+4A>G
ENST00000439754.6:c.627+4A>G	ENSP00000403207.2:n.627+4A>G
ENST00000449045.7:c.318+4A>G	ENSP00000392293.2:n.318+4A>G
ENST00000527311.7:c.396+4A>G	ENSP00000436695.3:n.396+4A>G
ENST00000530076.6:c.-31+4A>G	ENSP00000434007.1:n.-31+4A>G
ENST00000530704.6:c.*250+4A>G	ENSP00000431655.1:n.*250+4A>G
ENST00000641083.1:c.605+4A>G
ENST00000641236.1:n.864+4A>G
ENST00000641319.1:c.627+4A>G	ENSP00000493128.1:n.627+4A>G
ENST00000641381.1:c.149-3480A>G
ENST00000641471.1:c.714+4A>G	ENSP00000493146.1:n.714+4A>G
ENST00000641691.1:c.*479+4A>G	ENSP00000492910.1:n.*479+4A>G
ENST00000641924.1:c.*56+4A>G	ENSP00000493063.1:n.*56+4A>G
ENST00000642050.2:c.627+4A>G MANE Select	ENSP00000493153.1:n.627+4A>G
ENST00000372779.8:c.714+4A>G	ENSP00000361865.4:n.714+4A>G
ENST00000433473.7:c.627+4A>G	ENSP00000394863.3:n.627+4A>G
ENST00000439754.5:c.312+4A>G	ENSP00000403207.1:n.312+4A>G
ENST00000449045.6:c.318+4A>G	ENSP00000392293.2:n.318+4A>G
ENST00000527311.6:c.402+4A>G	ENSP00000436695.2:n.402+4A>G
ENST00000529905.5:c.627+4A>G	ENSP00000432053.1:n.627+4A>G
ENST00000530076.5:c.-31+4A>G	ENSP00000434007.1:n.-31+4A>G
ENST00000530704.5:c.*250+4A>G	ENSP00000431655.1:n.*250+4A>G
NM_000310.3:c.627+4A>G , LRG_690t1:c.627+4A>G	NP_000301.1:n.627+4A>G
NM_001142604.1:c.318+4A>G	NP_001136076.1:n.318+4A>G
XM_005271008.1:c.627+4A>G	XP_005271065.1:n.627+4A>G
NM_001363695.1:c.627+4A>G	NP_001350624.1:n.627+4A>G
NM_000310.4:c.627+4A>G MANE Select	NP_000301.1:n.627+4A>G
NM_001142604.2:c.318+4A>G	NP_001136076.1:n.318+4A>G
NM_001363695.2:c.627+4A>G	NP_001350624.1:n.627+4A>G