Canonical Allele Identifier: CA339846527

Gene: PPT1

Linked Data

• dbSNP Id: rs1398080802
• gnomAD v2: 1-40544230-A-G
• gnomAD v3: 1-40078558-A-G
• gnomAD v4: 1-40078558-A-G
• MyVariant Identifiers: chr1:g.40544230A>G (hg19) ; chr1:g.40078558A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078558A>G , CM000663.2:g.40078558A>G	GRCh38
NC_000001.10:g.40544230A>G , CM000663.1:g.40544230A>G	GRCh37
NC_000001.9:g.40316817A>G	NCBI36
NG_009192.1:g.23913T>C , LRG_690:g.23913T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000433473.8:c.723+2T>C	ENSP00000394863.4:n.723+2T>C
ENST00000439754.6:c.726+2T>C	ENSP00000403207.2:n.726+2T>C
ENST00000449045.7:c.417+2T>C	ENSP00000392293.2:n.417+2T>C
ENST00000527311.7:c.495+2T>C	ENSP00000436695.3:n.495+2T>C
ENST00000530076.6:c.69+2T>C	ENSP00000434007.1:n.69+2T>C
ENST00000530704.6:c.*349+2T>C	ENSP00000431655.1:n.*349+2T>C
ENST00000641083.1:c.704+2T>C
ENST00000641236.1:n.963+2T>C
ENST00000641319.1:c.726+2T>C	ENSP00000493128.1:n.726+2T>C
ENST00000641381.1:c.149-1645T>C
ENST00000641471.1:c.813+2T>C	ENSP00000493146.1:n.813+2T>C
ENST00000641691.1:c.*578+2T>C	ENSP00000492910.1:n.*578+2T>C
ENST00000641924.1:c.*155+2T>C	ENSP00000493063.1:n.*155+2T>C
ENST00000642050.2:c.726+2T>C MANE Select	ENSP00000493153.1:n.726+2T>C
ENST00000372775.2:n.123+2T>C
ENST00000433473.7:c.726+2T>C	ENSP00000394863.3:n.726+2T>C
ENST00000439754.5:c.411+2T>C	ENSP00000403207.1:n.411+2T>C
ENST00000449045.6:c.417+2T>C	ENSP00000392293.2:n.417+2T>C
ENST00000527311.6:c.501+2T>C	ENSP00000436695.2:n.501+2T>C
ENST00000529905.5:c.726+2T>C	ENSP00000432053.1:n.726+2T>C
ENST00000530076.5:c.69+2T>C	ENSP00000434007.1:n.69+2T>C
ENST00000530704.5:c.*349+2T>C	ENSP00000431655.1:n.*349+2T>C
NM_000310.3:c.726+2T>C , LRG_690t1:c.726+2T>C	NP_000301.1:n.726+2T>C
NM_001142604.1:c.417+2T>C	NP_001136076.1:n.417+2T>C
XM_005271008.1:c.726+2T>C	XP_005271065.1:n.726+2T>C
NM_001363695.1:c.726+2T>C	NP_001350624.1:n.726+2T>C
NM_000310.4:c.726+2T>C MANE Select	NP_000301.1:n.726+2T>C
NM_001142604.2:c.417+2T>C	NP_001136076.1:n.417+2T>C
NM_001363695.2:c.726+2T>C	NP_001350624.1:n.726+2T>C