Canonical Allele Identifier: CA789587

Gene: PPT1

Linked Data

• ClinVar Variation Id: 1109291
• ClinVar RCV Id: RCV001435121
• dbSNP Id: rs746776515
• ExAC: 1:40544262 A / G
• gnomAD v2: 1-40544262-A-G
• gnomAD v4: 1-40078590-A-G
• MyVariant Identifiers: chr1:g.40544262A>G (hg19) ; chr1:g.40078590A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078590A>G , CM000663.2:g.40078590A>G	GRCh38
NC_000001.10:g.40544262A>G , CM000663.1:g.40544262A>G	GRCh37
NC_000001.9:g.40316849A>G	NCBI36
NG_009192.1:g.23881T>C , LRG_690:g.23881T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.693T>C	ENSP00000394863.4:p.Asn231=
ENST00000439754.6:c.696T>C	ENSP00000403207.2:p.Asn232=
ENST00000449045.7:c.387T>C	ENSP00000392293.2:p.Asn129=
ENST00000527311.7:c.465T>C	ENSP00000436695.3:p.Asn155=
ENST00000530076.6:c.39T>C	ENSP00000434007.1:p.Asn13=
ENST00000530704.6:c.*319T>C	ENSP00000431655.1:n.*319T>C
ENST00000641083.1:c.674T>C
ENST00000641236.1:n.933T>C
ENST00000641319.1:c.696T>C	ENSP00000493128.1:p.Asn232=
ENST00000641381.1:c.149-1677T>C
ENST00000641471.1:c.783T>C	ENSP00000493146.1:p.Asn261=
ENST00000641691.1:c.*548T>C	ENSP00000492910.1:n.*548T>C
ENST00000641924.1:c.*125T>C	ENSP00000493063.1:n.*125T>C
ENST00000642050.2:c.696T>C MANE Select	ENSP00000493153.1:p.Asn232=
ENST00000372775.2:n.93T>C
ENST00000372779.8:c.783T>C	ENSP00000361865.4:p.Asn261=
ENST00000433473.7:c.696T>C	ENSP00000394863.3:p.Asn232=
ENST00000439754.5:c.381T>C	ENSP00000403207.1:p.Asn127=
ENST00000449045.6:c.387T>C	ENSP00000392293.2:p.Asn129=
ENST00000527311.6:c.471T>C	ENSP00000436695.2:p.Asn157=
ENST00000529905.5:c.696T>C	ENSP00000432053.1:p.Asn232=
ENST00000530076.5:c.39T>C	ENSP00000434007.1:p.Asn13=
ENST00000530704.5:c.*319T>C	ENSP00000431655.1:n.*319T>C
NM_000310.3:c.696T>C , LRG_690t1:c.696T>C	NP_000301.1:p.Asn232=
NM_001142604.1:c.387T>C	NP_001136076.1:p.Asn129=
XM_005271008.1:c.696T>C	XP_005271065.1:p.Asn232=
NM_001363695.1:c.696T>C	NP_001350624.1:p.Asn232=
NM_000310.4:c.696T>C MANE Select	NP_000301.1:p.Asn232=
NM_001142604.2:c.387T>C	NP_001136076.1:p.Asn129=
NM_001363695.2:c.696T>C	NP_001350624.1:p.Asn232=