Canonical Allele Identifier: CA789647

Gene: PPT1

Linked Data

• dbSNP Id: rs771660522
• ExAC: 1:40546149 C / T
• gnomAD v2: 1-40546149-C-T
• MyVariant Identifiers: chr1:g.40546149C>T (hg19) ; chr1:g.40080477C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080477C>T , CM000663.2:g.40080477C>T	GRCh38
NC_000001.10:g.40546149C>T , CM000663.1:g.40546149C>T	GRCh37
NC_000001.9:g.40318736C>T	NCBI36
NG_009192.1:g.21994G>A , LRG_690:g.21994G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*383G>A	ENSP00000361865.5:n.*383G>A
ENST00000433473.8:c.544G>A	ENSP00000394863.4:p.Ala182Thr
ENST00000439754.6:c.547G>A	ENSP00000403207.2:p.Ala183Thr
ENST00000449045.7:c.238G>A	ENSP00000392293.2:p.Ala80Thr
ENST00000527311.7:c.316G>A	ENSP00000436695.3:p.Ala106Thr
ENST00000530076.6:c.-111G>A	ENSP00000434007.1:n.-111G>A
ENST00000530704.6:c.*170G>A	ENSP00000431655.1:n.*170G>A
ENST00000641083.1:c.525G>A
ENST00000641236.1:n.784G>A
ENST00000641319.1:c.547G>A	ENSP00000493128.1:p.Ala183Thr
ENST00000641381.1:c.149-3564G>A
ENST00000641471.1:c.634G>A	ENSP00000493146.1:p.Ala212Thr
ENST00000641691.1:c.*399G>A	ENSP00000492910.1:n.*399G>A
ENST00000641924.1:c.135G>A	ENSP00000493063.1:p.Lys45=
ENST00000642050.2:c.547G>A MANE Select	ENSP00000493153.1:p.Ala183Thr
ENST00000372779.8:c.634G>A	ENSP00000361865.4:p.Ala212Thr
ENST00000433473.7:c.547G>A	ENSP00000394863.3:p.Ala183Thr
ENST00000439754.5:c.232G>A	ENSP00000403207.1:p.Ala78Thr
ENST00000449045.6:c.238G>A	ENSP00000392293.2:p.Ala80Thr
ENST00000527311.6:c.322G>A	ENSP00000436695.2:p.Ala108Thr
ENST00000529905.5:c.547G>A	ENSP00000432053.1:p.Ala183Thr
ENST00000530076.5:c.-111G>A	ENSP00000434007.1:n.-111G>A
ENST00000530704.5:c.*170G>A	ENSP00000431655.1:n.*170G>A
NM_000310.3:c.547G>A , LRG_690t1:c.547G>A	NP_000301.1:p.Ala183Thr
NM_001142604.1:c.238G>A	NP_001136076.1:p.Ala80Thr
XM_005271008.1:c.547G>A	XP_005271065.1:p.Ala183Thr
NM_001363695.1:c.547G>A	NP_001350624.1:p.Ala183Thr
NM_000310.4:c.547G>A MANE Select	NP_000301.1:p.Ala183Thr
NM_001142604.2:c.238G>A	NP_001136076.1:p.Ala80Thr
NM_001363695.2:c.547G>A	NP_001350624.1:p.Ala183Thr