Canonical Allele Identifier: CA339845641

Gene: PPT1

Linked Data

• gnomAD v4: 1-40074141-C-T
• MyVariant Identifiers: chr1:g.40539813C>T (hg19) ; chr1:g.40074141C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074141C>T , CM000663.2:g.40074141C>T	GRCh38
NC_000001.10:g.40539813C>T , CM000663.1:g.40539813C>T	GRCh37
NC_000001.9:g.40312400C>T	NCBI36
NG_009192.1:g.28330G>A , LRG_690:g.28330G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.838G>A	ENSP00000394863.4:p.Val280Met
ENST00000439754.6:c.769G>A	ENSP00000403207.2:p.Val257Met
ENST00000449045.7:c.532G>A	ENSP00000392293.2:p.Val178Met
ENST00000527311.7:c.610G>A	ENSP00000436695.3:p.Val204Met
ENST00000530076.6:c.184G>A	ENSP00000434007.1:p.Val62Met
ENST00000530704.6:c.*464G>A	ENSP00000431655.1:n.*464G>A
ENST00000641083.1:c.931G>A
ENST00000641236.1:n.1078G>A
ENST00000641319.1:c.*51G>A	ENSP00000493128.1:n.*51G>A
ENST00000641381.1:c.263G>A
ENST00000641471.1:c.928G>A	ENSP00000493146.1:p.Val310Met
ENST00000641691.1:c.*693G>A	ENSP00000492910.1:n.*693G>A
ENST00000641924.1:c.*270G>A	ENSP00000493063.1:n.*270G>A
ENST00000642050.2:c.841G>A MANE Select	ENSP00000493153.1:p.Val281Met
ENST00000372775.2:n.238G>A
ENST00000433473.7:c.841G>A	ENSP00000394863.3:p.Val281Met
ENST00000439754.5:c.454G>A	ENSP00000403207.1:p.Val152Met
ENST00000449045.6:c.532G>A	ENSP00000392293.2:p.Val178Met
ENST00000529905.5:c.841G>A	ENSP00000432053.1:p.Val281Met
ENST00000530076.5:c.184G>A	ENSP00000434007.1:p.Val62Met
ENST00000530704.5:c.*464G>A	ENSP00000431655.1:n.*464G>A
NM_000310.3:c.841G>A , LRG_690t1:c.841G>A	NP_000301.1:p.Val281Met
NM_001142604.1:c.532G>A	NP_001136076.1:p.Val178Met
XM_005271008.1:c.769G>A	XP_005271065.1:p.Val257Met
NM_001363695.1:c.769G>A	NP_001350624.1:p.Val257Met
NM_000310.4:c.841G>A MANE Select	NP_000301.1:p.Val281Met
NM_001142604.2:c.532G>A	NP_001136076.1:p.Val178Met
NM_001363695.2:c.769G>A	NP_001350624.1:p.Val257Met