Canonical Allele Identifier: CA417322024

Gene: PPT1

Linked Data

• dbSNP Id: rs1490280898
• gnomAD v2: 1-40539823-T-G
• gnomAD v3: 1-40074151-T-G
• gnomAD v4: 1-40074151-T-G
• MyVariant Identifiers: chr1:g.40539823T>G (hg19) ; chr1:g.40074151T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074151T>G , CM000663.2:g.40074151T>G	GRCh38
NC_000001.10:g.40539823T>G , CM000663.1:g.40539823T>G	GRCh37
NC_000001.9:g.40312410T>G	NCBI36
NG_009192.1:g.28320A>C , LRG_690:g.28320A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.828A>C	ENSP00000394863.4:p.Ala276=
ENST00000439754.6:c.759A>C	ENSP00000403207.2:p.Ala253=
ENST00000449045.7:c.522A>C	ENSP00000392293.2:p.Ala174=
ENST00000527311.7:c.600A>C	ENSP00000436695.3:p.Ala200=
ENST00000530076.6:c.174A>C	ENSP00000434007.1:p.Ala58=
ENST00000530704.6:c.*454A>C	ENSP00000431655.1:n.*454A>C
ENST00000641083.1:c.921A>C
ENST00000641236.1:n.1068A>C
ENST00000641319.1:c.*41A>C	ENSP00000493128.1:n.*41A>C
ENST00000641381.1:c.253A>C
ENST00000641471.1:c.918A>C	ENSP00000493146.1:p.Ala306=
ENST00000641691.1:c.*683A>C	ENSP00000492910.1:n.*683A>C
ENST00000641924.1:c.*260A>C	ENSP00000493063.1:n.*260A>C
ENST00000642050.2:c.831A>C MANE Select	ENSP00000493153.1:p.Ala277=
ENST00000372775.2:n.228A>C
ENST00000433473.7:c.831A>C	ENSP00000394863.3:p.Ala277=
ENST00000439754.5:c.444A>C	ENSP00000403207.1:p.Ala148=
ENST00000449045.6:c.522A>C	ENSP00000392293.2:p.Ala174=
ENST00000527311.6:c.606A>C	ENSP00000436695.2:p.Ala202=
ENST00000529905.5:c.831A>C	ENSP00000432053.1:p.Ala277=
ENST00000530076.5:c.174A>C	ENSP00000434007.1:p.Ala58=
ENST00000530704.5:c.*454A>C	ENSP00000431655.1:n.*454A>C
NM_000310.3:c.831A>C , LRG_690t1:c.831A>C	NP_000301.1:p.Ala277=
NM_001142604.1:c.522A>C	NP_001136076.1:p.Ala174=
XM_005271008.1:c.759A>C	XP_005271065.1:p.Ala253=
NM_001363695.1:c.759A>C	NP_001350624.1:p.Ala253=
NM_000310.4:c.831A>C MANE Select	NP_000301.1:p.Ala277=
NM_001142604.2:c.522A>C	NP_001136076.1:p.Ala174=
NM_001363695.2:c.759A>C	NP_001350624.1:p.Ala253=