Canonical Allele Identifier: CA789645

Gene: PPT1

Linked Data

• ClinVar Variation Id: 2148390
• ClinVar RCV Id: RCV003068806
• dbSNP Id: rs755854033
• ExAC: 1:40546108 G / A
• gnomAD v2: 1-40546108-G-A
• gnomAD v3: 1-40080436-G-A
• gnomAD v4: 1-40080436-G-A
• MyVariant Identifiers: chr1:g.40546108G>A (hg19) ; chr1:g.40080436G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080436G>A , CM000663.2:g.40080436G>A	GRCh38
NC_000001.10:g.40546108G>A , CM000663.1:g.40546108G>A	GRCh37
NC_000001.9:g.40318695G>A	NCBI36
NG_009192.1:g.22035C>T , LRG_690:g.22035C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.585C>T	ENSP00000394863.4:p.Arg195=
ENST00000439754.6:c.588C>T	ENSP00000403207.2:p.Arg196=
ENST00000449045.7:c.279C>T	ENSP00000392293.2:p.Arg93=
ENST00000527311.7:c.357C>T	ENSP00000436695.3:p.Arg119=
ENST00000530076.6:c.-70C>T	ENSP00000434007.1:n.-70C>T
ENST00000530704.6:c.*211C>T	ENSP00000431655.1:n.*211C>T
ENST00000641083.1:c.566C>T
ENST00000641236.1:n.825C>T
ENST00000641319.1:c.588C>T	ENSP00000493128.1:p.Arg196=
ENST00000641381.1:c.149-3523C>T
ENST00000641471.1:c.675C>T	ENSP00000493146.1:p.Arg225=
ENST00000641691.1:c.*440C>T	ENSP00000492910.1:n.*440C>T
ENST00000641924.1:c.*17C>T	ENSP00000493063.1:n.*17C>T
ENST00000642050.2:c.588C>T MANE Select	ENSP00000493153.1:p.Arg196=
ENST00000372779.8:c.675C>T	ENSP00000361865.4:p.Arg225=
ENST00000433473.7:c.588C>T	ENSP00000394863.3:p.Arg196=
ENST00000439754.5:c.273C>T	ENSP00000403207.1:p.Arg91=
ENST00000449045.6:c.279C>T	ENSP00000392293.2:p.Arg93=
ENST00000527311.6:c.363C>T	ENSP00000436695.2:p.Arg121=
ENST00000529905.5:c.588C>T	ENSP00000432053.1:p.Arg196=
ENST00000530076.5:c.-70C>T	ENSP00000434007.1:n.-70C>T
ENST00000530704.5:c.*211C>T	ENSP00000431655.1:n.*211C>T
NM_000310.3:c.588C>T , LRG_690t1:c.588C>T	NP_000301.1:p.Arg196=
NM_001142604.1:c.279C>T	NP_001136076.1:p.Arg93=
XM_005271008.1:c.588C>T	XP_005271065.1:p.Arg196=
NM_001363695.1:c.588C>T	NP_001350624.1:p.Arg196=
NM_000310.4:c.588C>T MANE Select	NP_000301.1:p.Arg196=
NM_001142604.2:c.279C>T	NP_001136076.1:p.Arg93=
NM_001363695.2:c.588C>T	NP_001350624.1:p.Arg196=