Canonical Allele Identifier: CA522418117

Gene: PPT1

Linked Data

• dbSNP Id: rs1187291762
• gnomAD v2: 1-40544486-G-A
• gnomAD v4: 1-40078814-G-A
• MyVariant Identifiers: chr1:g.40544486G>A (hg19) ; chr1:g.40078814G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078814G>A , CM000663.2:g.40078814G>A	GRCh38
NC_000001.10:g.40544486G>A , CM000663.1:g.40544486G>A	GRCh37
NC_000001.9:g.40317073G>A	NCBI36
NG_009192.1:g.23657C>T , LRG_690:g.23657C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.625-156C>T	ENSP00000394863.4:n.625-156C>T
ENST00000439754.6:c.628-156C>T	ENSP00000403207.2:n.628-156C>T
ENST00000449045.7:c.319-156C>T	ENSP00000392293.2:n.319-156C>T
ENST00000527311.7:c.397-156C>T	ENSP00000436695.3:n.397-156C>T
ENST00000530076.6:c.-30-156C>T	ENSP00000434007.1:n.-30-156C>T
ENST00000530704.6:c.*251-156C>T	ENSP00000431655.1:n.*251-156C>T
ENST00000641083.1:c.606-156C>T
ENST00000641236.1:n.865-156C>T
ENST00000641319.1:c.628-156C>T	ENSP00000493128.1:n.628-156C>T
ENST00000641381.1:c.149-1901C>T
ENST00000641471.1:c.715-156C>T	ENSP00000493146.1:n.715-156C>T
ENST00000641691.1:c.*480-156C>T	ENSP00000492910.1:n.*480-156C>T
ENST00000641924.1:c.*57-156C>T	ENSP00000493063.1:n.*57-156C>T
ENST00000642050.2:c.628-156C>T MANE Select	ENSP00000493153.1:n.628-156C>T
ENST00000372775.2:n.22C>T
ENST00000372779.8:c.715-156C>T	ENSP00000361865.4:n.715-156C>T
ENST00000433473.7:c.628-156C>T	ENSP00000394863.3:n.628-156C>T
ENST00000439754.5:c.313-156C>T	ENSP00000403207.1:n.313-156C>T
ENST00000449045.6:c.319-156C>T	ENSP00000392293.2:n.319-156C>T
ENST00000527311.6:c.403-156C>T	ENSP00000436695.2:n.403-156C>T
ENST00000529905.5:c.628-156C>T	ENSP00000432053.1:n.628-156C>T
ENST00000530076.5:c.-30-156C>T	ENSP00000434007.1:n.-30-156C>T
ENST00000530704.5:c.*251-156C>T	ENSP00000431655.1:n.*251-156C>T
NM_000310.3:c.628-156C>T , LRG_690t1:c.628-156C>T	NP_000301.1:n.628-156C>T
NM_001142604.1:c.319-156C>T	NP_001136076.1:n.319-156C>T
XM_005271008.1:c.628-156C>T	XP_005271065.1:n.628-156C>T
NM_001363695.1:c.628-156C>T	NP_001350624.1:n.628-156C>T
NM_000310.4:c.628-156C>T MANE Select	NP_000301.1:n.628-156C>T
NM_001142604.2:c.319-156C>T	NP_001136076.1:n.319-156C>T
NM_001363695.2:c.628-156C>T	NP_001350624.1:n.628-156C>T