Canonical Allele Identifier: CA522418052

Gene: PPT1

Linked Data

• dbSNP Id: rs1374565613
• gnomAD v2: 1-40544211-G-A
• gnomAD v4: 1-40078539-G-A
• MyVariant Identifiers: chr1:g.40544211G>A (hg19) ; chr1:g.40078539G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078539G>A , CM000663.2:g.40078539G>A	GRCh38
NC_000001.10:g.40544211G>A , CM000663.1:g.40544211G>A	GRCh37
NC_000001.9:g.40316798G>A	NCBI36
NG_009192.1:g.23932C>T , LRG_690:g.23932C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000433473.8:c.723+21C>T	ENSP00000394863.4:n.723+21C>T
ENST00000439754.6:c.726+21C>T	ENSP00000403207.2:n.726+21C>T
ENST00000449045.7:c.417+21C>T	ENSP00000392293.2:n.417+21C>T
ENST00000527311.7:c.495+21C>T	ENSP00000436695.3:n.495+21C>T
ENST00000530076.6:c.69+21C>T	ENSP00000434007.1:n.69+21C>T
ENST00000530704.6:c.*349+21C>T	ENSP00000431655.1:n.*349+21C>T
ENST00000641083.1:c.704+21C>T
ENST00000641236.1:n.963+21C>T
ENST00000641319.1:c.726+21C>T	ENSP00000493128.1:n.726+21C>T
ENST00000641381.1:c.149-1626C>T
ENST00000641471.1:c.813+21C>T	ENSP00000493146.1:n.813+21C>T
ENST00000641691.1:c.*578+21C>T	ENSP00000492910.1:n.*578+21C>T
ENST00000641924.1:c.*155+21C>T	ENSP00000493063.1:n.*155+21C>T
ENST00000642050.2:c.726+21C>T MANE Select	ENSP00000493153.1:n.726+21C>T
ENST00000372775.2:n.123+21C>T
ENST00000433473.7:c.726+21C>T	ENSP00000394863.3:n.726+21C>T
ENST00000439754.5:c.411+21C>T	ENSP00000403207.1:n.411+21C>T
ENST00000449045.6:c.417+21C>T	ENSP00000392293.2:n.417+21C>T
ENST00000527311.6:c.501+21C>T	ENSP00000436695.2:n.501+21C>T
ENST00000529905.5:c.726+21C>T	ENSP00000432053.1:n.726+21C>T
ENST00000530076.5:c.69+21C>T	ENSP00000434007.1:n.69+21C>T
ENST00000530704.5:c.*349+21C>T	ENSP00000431655.1:n.*349+21C>T
NM_000310.3:c.726+21C>T , LRG_690t1:c.726+21C>T	NP_000301.1:n.726+21C>T
NM_001142604.1:c.417+21C>T	NP_001136076.1:n.417+21C>T
XM_005271008.1:c.726+21C>T	XP_005271065.1:n.726+21C>T
NM_001363695.1:c.726+21C>T	NP_001350624.1:n.726+21C>T
NM_000310.4:c.726+21C>T MANE Select	NP_000301.1:n.726+21C>T
NM_001142604.2:c.417+21C>T	NP_001136076.1:n.417+21C>T
NM_001363695.2:c.726+21C>T	NP_001350624.1:n.726+21C>T