Canonical Allele Identifier: CA789833

Gene: PPT1

Linked Data

• dbSNP Id: rs767734537
• ExAC: 1:40562795 T / G
• gnomAD v2: 1-40562795-T-G
• gnomAD v4: 1-40097123-T-G
• MyVariant Identifiers: chr1:g.40562795T>G (hg19) ; chr1:g.40097123T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40097123T>G , CM000663.2:g.40097123T>G	GRCh38
NC_000001.10:g.40562795T>G , CM000663.1:g.40562795T>G	GRCh37
NC_000001.9:g.40335382T>G	NCBI36
NG_009192.1:g.5348A>C , LRG_690:g.5348A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.116A>C	ENSP00000361865.5:p.His39Pro
ENST00000433473.8:c.116A>C	ENSP00000394863.4:p.His39Pro
ENST00000439754.6:c.116A>C	ENSP00000403207.2:p.His39Pro
ENST00000449045.7:c.116A>C	ENSP00000392293.2:p.His39Pro
ENST00000526547.2:c.90A>C
ENST00000527311.7:c.116A>C	ENSP00000436695.3:p.His39Pro
ENST00000530704.6:c.116A>C	ENSP00000431655.1:p.His39Pro
ENST00000641083.1:c.94A>C
ENST00000641236.1:n.128A>C
ENST00000641319.1:c.116A>C	ENSP00000493128.1:p.His39Pro
ENST00000641471.1:c.116A>C	ENSP00000493146.1:p.His39Pro
ENST00000641548.1:c.116A>C	ENSP00000492984.1:p.His39Pro
ENST00000641691.1:c.116A>C	ENSP00000492910.1:p.His39Pro
ENST00000641924.1:c.116A>C	ENSP00000493063.1:p.His39Pro
ENST00000642050.2:c.116A>C MANE Select	ENSP00000493153.1:p.His39Pro
ENST00000372779.8:c.116A>C	ENSP00000361865.4:p.His39Pro
ENST00000433473.7:c.116A>C	ENSP00000394863.3:p.His39Pro
ENST00000449045.6:c.116A>C	ENSP00000392293.2:p.His39Pro
ENST00000527311.6:c.116A>C	ENSP00000436695.2:p.His39Pro
ENST00000529905.5:c.116A>C	ENSP00000432053.1:p.His39Pro
ENST00000530704.5:c.116A>C	ENSP00000431655.1:p.His39Pro
NM_000310.3:c.116A>C , LRG_690t1:c.116A>C	NP_000301.1:p.His39Pro
NM_001142604.1:c.116A>C	NP_001136076.1:p.His39Pro
XM_005271008.1:c.116A>C	XP_005271065.1:p.His39Pro
NM_001363695.1:c.116A>C	NP_001350624.1:p.His39Pro
NM_000310.4:c.116A>C MANE Select	NP_000301.1:p.His39Pro
NM_001142604.2:c.116A>C	NP_001136076.1:p.His39Pro
NM_001363695.2:c.116A>C	NP_001350624.1:p.His39Pro