Canonical Allele Identifier: CA263534

Gene: PPT1

Linked Data

• ClinVar Variation Id: 56207
• ClinVar RCV Id: RCV000049618
• dbSNP Id: rs386833658
• gnomAD v3: 1-40080458-G-C
• gnomAD v4: 1-40080458-G-C
• MyVariant Identifiers: chr1:g.40546130G>C (hg19) ; chr1:g.40080458G>C (hg38)
• PubMed: PMID:21990111

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080458G>C , CM000663.2:g.40080458G>C	GRCh38
NC_000001.10:g.40546130G>C , CM000663.1:g.40546130G>C	GRCh37
NC_000001.9:g.40318717G>C	NCBI36
NG_009192.1:g.22013C>G , LRG_690:g.22013C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*402C>G	ENSP00000361865.5:n.*402C>G
ENST00000433473.8:c.563C>G	ENSP00000394863.4:p.Pro188Arg
ENST00000439754.6:c.566C>G	ENSP00000403207.2:p.Pro189Arg
ENST00000449045.7:c.257C>G	ENSP00000392293.2:p.Pro86Arg
ENST00000527311.7:c.335C>G	ENSP00000436695.3:p.Pro112Arg
ENST00000530076.6:c.-92C>G	ENSP00000434007.1:n.-92C>G
ENST00000530704.6:c.*189C>G	ENSP00000431655.1:n.*189C>G
ENST00000641083.1:c.544C>G
ENST00000641236.1:n.803C>G
ENST00000641319.1:c.566C>G	ENSP00000493128.1:p.Pro189Arg
ENST00000641381.1:c.149-3545C>G
ENST00000641471.1:c.653C>G	ENSP00000493146.1:p.Pro218Arg
ENST00000641691.1:c.*418C>G	ENSP00000492910.1:n.*418C>G
ENST00000641924.1:c.154C>G	ENSP00000493063.1:p.Pro52Ala
ENST00000642050.2:c.566C>G MANE Select	ENSP00000493153.1:p.Pro189Arg
ENST00000372779.8:c.653C>G	ENSP00000361865.4:p.Pro218Arg
ENST00000433473.7:c.566C>G	ENSP00000394863.3:p.Pro189Arg
ENST00000439754.5:c.251C>G	ENSP00000403207.1:p.Pro84Arg
ENST00000449045.6:c.257C>G	ENSP00000392293.2:p.Pro86Arg
ENST00000527311.6:c.341C>G	ENSP00000436695.2:p.Pro114Arg
ENST00000529905.5:c.566C>G	ENSP00000432053.1:p.Pro189Arg
ENST00000530076.5:c.-92C>G	ENSP00000434007.1:n.-92C>G
ENST00000530704.5:c.*189C>G	ENSP00000431655.1:n.*189C>G
NM_000310.3:c.566C>G , LRG_690t1:c.566C>G	NP_000301.1:p.Pro189Arg
NM_001142604.1:c.257C>G	NP_001136076.1:p.Pro86Arg
XM_005271008.1:c.566C>G	XP_005271065.1:p.Pro189Arg
NM_001363695.1:c.566C>G	NP_001350624.1:p.Pro189Arg
NM_000310.4:c.566C>G MANE Select	NP_000301.1:p.Pro189Arg
NM_001142604.2:c.257C>G	NP_001136076.1:p.Pro86Arg
NM_001363695.2:c.566C>G	NP_001350624.1:p.Pro189Arg