Canonical Allele Identifier: CA339847610

Gene: PPT1

Linked Data

• dbSNP Id: rs1182891415
• gnomAD v2: 1-40546085-T-G
• gnomAD v4: 1-40080413-T-G
• MyVariant Identifiers: chr1:g.40546085T>G (hg19) ; chr1:g.40080413T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080413T>G , CM000663.2:g.40080413T>G	GRCh38
NC_000001.10:g.40546085T>G , CM000663.1:g.40546085T>G	GRCh37
NC_000001.9:g.40318672T>G	NCBI36
NG_009192.1:g.22058A>C , LRG_690:g.22058A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.608A>C	ENSP00000394863.4:p.Asp203Ala
ENST00000439754.6:c.611A>C	ENSP00000403207.2:p.Asp204Ala
ENST00000449045.7:c.302A>C	ENSP00000392293.2:p.Asp101Ala
ENST00000527311.7:c.380A>C	ENSP00000436695.3:p.Asp127Ala
ENST00000530076.6:c.-47A>C	ENSP00000434007.1:n.-47A>C
ENST00000530704.6:c.*234A>C	ENSP00000431655.1:n.*234A>C
ENST00000641083.1:c.589A>C
ENST00000641236.1:n.848A>C
ENST00000641319.1:c.611A>C	ENSP00000493128.1:p.Asp204Ala
ENST00000641381.1:c.149-3500A>C
ENST00000641471.1:c.698A>C	ENSP00000493146.1:p.Asp233Ala
ENST00000641691.1:c.*463A>C	ENSP00000492910.1:n.*463A>C
ENST00000641924.1:c.*40A>C	ENSP00000493063.1:n.*40A>C
ENST00000642050.2:c.611A>C MANE Select	ENSP00000493153.1:p.Asp204Ala
ENST00000372779.8:c.698A>C	ENSP00000361865.4:p.Asp233Ala
ENST00000433473.7:c.611A>C	ENSP00000394863.3:p.Asp204Ala
ENST00000439754.5:c.296A>C	ENSP00000403207.1:p.Asp99Ala
ENST00000449045.6:c.302A>C	ENSP00000392293.2:p.Asp101Ala
ENST00000527311.6:c.386A>C	ENSP00000436695.2:p.Asp129Ala
ENST00000529905.5:c.611A>C	ENSP00000432053.1:p.Asp204Ala
ENST00000530076.5:c.-47A>C	ENSP00000434007.1:n.-47A>C
ENST00000530704.5:c.*234A>C	ENSP00000431655.1:n.*234A>C
NM_000310.3:c.611A>C , LRG_690t1:c.611A>C	NP_000301.1:p.Asp204Ala
NM_001142604.1:c.302A>C	NP_001136076.1:p.Asp101Ala
XM_005271008.1:c.611A>C	XP_005271065.1:p.Asp204Ala
NM_001363695.1:c.611A>C	NP_001350624.1:p.Asp204Ala
NM_000310.4:c.611A>C MANE Select	NP_000301.1:p.Asp204Ala
NM_001142604.2:c.302A>C	NP_001136076.1:p.Asp101Ala
NM_001363695.2:c.611A>C	NP_001350624.1:p.Asp204Ala