Canonical Allele Identifier: CA735697469

Gene: PPT1

Linked Data

• dbSNP Id: rs1470988294
• MyVariant Identifiers: chr1:g.40562922C>T (hg19) ; chr1:g.40097250C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40097250C>T , CM000663.2:g.40097250C>T	GRCh38
NC_000001.10:g.40562922C>T , CM000663.1:g.40562922C>T	GRCh37
NC_000001.9:g.40335509C>T	NCBI36
NG_009192.1:g.5221G>A , LRG_690:g.5221G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.-12G>A	ENSP00000394863.4:n.-12G>A
ENST00000439754.6:c.-12G>A	ENSP00000403207.2:n.-12G>A
ENST00000449045.7:c.-12G>A	ENSP00000392293.2:n.-12G>A
ENST00000527311.7:c.-12G>A	ENSP00000436695.3:n.-12G>A
ENST00000530704.6:c.-12G>A	ENSP00000431655.1:n.-12G>A
ENST00000641236.1:n.1G>A
ENST00000641319.1:c.-12G>A	ENSP00000493128.1:n.-12G>A
ENST00000641548.1:c.-12G>A	ENSP00000492984.1:n.-12G>A
ENST00000641691.1:c.-12G>A	ENSP00000492910.1:n.-12G>A
ENST00000642050.2:c.-12G>A MANE Select	ENSP00000493153.1:n.-12G>A
ENST00000372779.8:c.-12G>A	ENSP00000361865.4:n.-12G>A
ENST00000433473.7:c.-12G>A	ENSP00000394863.3:n.-12G>A
ENST00000449045.6:c.-12G>A	ENSP00000392293.2:n.-12G>A
ENST00000530704.5:c.-12G>A	ENSP00000431655.1:n.-12G>A
NM_000310.3:c.-12G>A , LRG_690t1:c.-12G>A	NP_000301.1:n.-12G>A
NM_001142604.1:c.-12G>A	NP_001136076.1:n.-12G>A
XM_005271008.1:c.-12G>A	XP_005271065.1:n.-12G>A
NM_001363695.1:c.-12G>A	NP_001350624.1:n.-12G>A
NM_000310.4:c.-12G>A MANE Select	NP_000301.1:n.-12G>A
NM_001142604.2:c.-12G>A	NP_001136076.1:n.-12G>A
NM_001363695.2:c.-12G>A	NP_001350624.1:n.-12G>A