Canonical Allele Identifier: CA735686512

Gene: PPT1

Linked Data

• dbSNP Id: rs1381608016
• MyVariant Identifiers: chr1:g.40544442C>T (hg19) ; chr1:g.40078770C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078770C>T , CM000663.2:g.40078770C>T	GRCh38
NC_000001.10:g.40544442C>T , CM000663.1:g.40544442C>T	GRCh37
NC_000001.9:g.40317029C>T	NCBI36
NG_009192.1:g.23701G>A , LRG_690:g.23701G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.625-112G>A	ENSP00000394863.4:n.625-112G>A
ENST00000439754.6:c.628-112G>A	ENSP00000403207.2:n.628-112G>A
ENST00000449045.7:c.319-112G>A	ENSP00000392293.2:n.319-112G>A
ENST00000527311.7:c.397-112G>A	ENSP00000436695.3:n.397-112G>A
ENST00000530076.6:c.-30-112G>A	ENSP00000434007.1:n.-30-112G>A
ENST00000530704.6:c.*251-112G>A	ENSP00000431655.1:n.*251-112G>A
ENST00000641083.1:c.606-112G>A
ENST00000641236.1:n.865-112G>A
ENST00000641319.1:c.628-112G>A	ENSP00000493128.1:n.628-112G>A
ENST00000641381.1:c.149-1857G>A
ENST00000641471.1:c.715-112G>A	ENSP00000493146.1:n.715-112G>A
ENST00000641691.1:c.*480-112G>A	ENSP00000492910.1:n.*480-112G>A
ENST00000641924.1:c.*57-112G>A	ENSP00000493063.1:n.*57-112G>A
ENST00000642050.2:c.628-112G>A MANE Select	ENSP00000493153.1:n.628-112G>A
ENST00000372775.2:n.24+42G>A
ENST00000372779.8:c.715-112G>A	ENSP00000361865.4:n.715-112G>A
ENST00000433473.7:c.628-112G>A	ENSP00000394863.3:n.628-112G>A
ENST00000439754.5:c.313-112G>A	ENSP00000403207.1:n.313-112G>A
ENST00000449045.6:c.319-112G>A	ENSP00000392293.2:n.319-112G>A
ENST00000527311.6:c.403-112G>A	ENSP00000436695.2:n.403-112G>A
ENST00000529905.5:c.628-112G>A	ENSP00000432053.1:n.628-112G>A
ENST00000530076.5:c.-30-112G>A	ENSP00000434007.1:n.-30-112G>A
ENST00000530704.5:c.*251-112G>A	ENSP00000431655.1:n.*251-112G>A
NM_000310.3:c.628-112G>A , LRG_690t1:c.628-112G>A	NP_000301.1:n.628-112G>A
NM_001142604.1:c.319-112G>A	NP_001136076.1:n.319-112G>A
XM_005271008.1:c.628-112G>A	XP_005271065.1:n.628-112G>A
NM_001363695.1:c.628-112G>A	NP_001350624.1:n.628-112G>A
NM_000310.4:c.628-112G>A MANE Select	NP_000301.1:n.628-112G>A
NM_001142604.2:c.319-112G>A	NP_001136076.1:n.319-112G>A
NM_001363695.2:c.628-112G>A	NP_001350624.1:n.628-112G>A