Canonical Allele Identifier: CA789607

Gene: PPT1

Linked Data

• dbSNP Id: rs748065608
• ExAC: 1:40544380 A / G
• gnomAD v2: 1-40544380-A-G
• gnomAD v4: 1-40078708-A-G
• MyVariant Identifiers: chr1:g.40544380A>G (hg19) ; chr1:g.40078708A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078708A>G , CM000663.2:g.40078708A>G	GRCh38
NC_000001.10:g.40544380A>G , CM000663.1:g.40544380A>G	GRCh37
NC_000001.9:g.40316967A>G	NCBI36
NG_009192.1:g.23763T>C , LRG_690:g.23763T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.625-50T>C	ENSP00000394863.4:n.625-50T>C
ENST00000439754.6:c.628-50T>C	ENSP00000403207.2:n.628-50T>C
ENST00000449045.7:c.319-50T>C	ENSP00000392293.2:n.319-50T>C
ENST00000527311.7:c.397-50T>C	ENSP00000436695.3:n.397-50T>C
ENST00000530076.6:c.-30-50T>C	ENSP00000434007.1:n.-30-50T>C
ENST00000530704.6:c.*251-50T>C	ENSP00000431655.1:n.*251-50T>C
ENST00000641083.1:c.606-50T>C
ENST00000641236.1:n.865-50T>C
ENST00000641319.1:c.628-50T>C	ENSP00000493128.1:n.628-50T>C
ENST00000641381.1:c.149-1795T>C
ENST00000641471.1:c.715-50T>C	ENSP00000493146.1:n.715-50T>C
ENST00000641691.1:c.*480-50T>C	ENSP00000492910.1:n.*480-50T>C
ENST00000641924.1:c.*57-50T>C	ENSP00000493063.1:n.*57-50T>C
ENST00000642050.2:c.628-50T>C MANE Select	ENSP00000493153.1:n.628-50T>C
ENST00000372775.2:n.25-50T>C
ENST00000372779.8:c.715-50T>C	ENSP00000361865.4:n.715-50T>C
ENST00000433473.7:c.628-50T>C	ENSP00000394863.3:n.628-50T>C
ENST00000439754.5:c.313-50T>C	ENSP00000403207.1:n.313-50T>C
ENST00000449045.6:c.319-50T>C	ENSP00000392293.2:n.319-50T>C
ENST00000527311.6:c.403-50T>C	ENSP00000436695.2:n.403-50T>C
ENST00000529905.5:c.628-50T>C	ENSP00000432053.1:n.628-50T>C
ENST00000530076.5:c.-30-50T>C	ENSP00000434007.1:n.-30-50T>C
ENST00000530704.5:c.*251-50T>C	ENSP00000431655.1:n.*251-50T>C
NM_000310.3:c.628-50T>C , LRG_690t1:c.628-50T>C	NP_000301.1:n.628-50T>C
NM_001142604.1:c.319-50T>C	NP_001136076.1:n.319-50T>C
XM_005271008.1:c.628-50T>C	XP_005271065.1:n.628-50T>C
NM_001363695.1:c.628-50T>C	NP_001350624.1:n.628-50T>C
NM_000310.4:c.628-50T>C MANE Select	NP_000301.1:n.628-50T>C
NM_001142604.2:c.319-50T>C	NP_001136076.1:n.319-50T>C
NM_001363695.2:c.628-50T>C	NP_001350624.1:n.628-50T>C