Canonical Allele Identifier: CA339849082

Gene: PPT1

Linked Data

• gnomAD v4: 1-40092091-G-C
• MyVariant Identifiers: chr1:g.40557763G>C (hg19) ; chr1:g.40092091G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092091G>C , CM000663.2:g.40092091G>C	GRCh38
NC_000001.10:g.40557763G>C , CM000663.1:g.40557763G>C	GRCh37
NC_000001.9:g.40330350G>C	NCBI36
NG_009192.1:g.10380C>G , LRG_690:g.10380C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*152C>G	ENSP00000361865.5:n.*152C>G
ENST00000433473.8:c.313C>G	ENSP00000394863.4:p.Gln105Glu
ENST00000439754.6:c.316C>G	ENSP00000403207.2:p.Gln106Glu
ENST00000449045.7:c.125-2579C>G	ENSP00000392293.2:n.125-2579C>G
ENST00000526547.2:c.596C>G
ENST00000527311.7:c.234+307C>G	ENSP00000436695.3:n.234+307C>G
ENST00000530704.6:c.316C>G	ENSP00000431655.1:p.Gln106Glu
ENST00000641083.1:c.294C>G
ENST00000641236.1:n.553C>G
ENST00000641319.1:c.316C>G	ENSP00000493128.1:p.Gln106Glu
ENST00000641471.1:c.403C>G	ENSP00000493146.1:p.Gln135Glu
ENST00000641548.1:c.*168C>G	ENSP00000492984.1:n.*168C>G
ENST00000641691.1:c.*168C>G	ENSP00000492910.1:n.*168C>G
ENST00000641924.1:c.124+5024C>G	ENSP00000493063.1:n.124+5024C>G
ENST00000642050.2:c.316C>G MANE Select	ENSP00000493153.1:p.Gln106Glu
ENST00000372779.8:c.403C>G	ENSP00000361865.4:p.Gln135Glu
ENST00000433473.7:c.316C>G	ENSP00000394863.3:p.Gln106Glu
ENST00000439754.5:c.1C>G	ENSP00000403207.1:p.Gln1Glu
ENST00000449045.6:c.125-2579C>G	ENSP00000392293.2:n.125-2579C>G
ENST00000526547.1:c.166C>G	ENSP00000436481.1:p.Gln56Glu
ENST00000527311.6:c.125-34C>G	ENSP00000436695.2:n.125-34C>G
ENST00000529905.5:c.316C>G	ENSP00000432053.1:p.Gln106Glu
ENST00000530704.5:c.316C>G	ENSP00000431655.1:p.Gln106Glu
NM_000310.3:c.316C>G , LRG_690t1:c.316C>G	NP_000301.1:p.Gln106Glu
NM_001142604.1:c.125-2579C>G	NP_001136076.1:n.125-2579C>G
XM_005271008.1:c.316C>G	XP_005271065.1:p.Gln106Glu
NM_001363695.1:c.316C>G	NP_001350624.1:p.Gln106Glu
NM_000310.4:c.316C>G MANE Select	NP_000301.1:p.Gln106Glu
NM_001142604.2:c.125-2579C>G	NP_001136076.1:n.125-2579C>G
NM_001363695.2:c.316C>G	NP_001350624.1:p.Gln106Glu