Canonical Allele Identifier: CA339849616

Gene: PPT1

Linked Data

• ClinVar Variation Id: 952623
• ClinVar RCV Id: RCV001224764
• dbSNP Id: rs1649619197
• MyVariant Identifiers: chr1:g.40558086C>G (hg19) ; chr1:g.40092414C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092414C>G , CM000663.2:g.40092414C>G	GRCh38
NC_000001.10:g.40558086C>G , CM000663.1:g.40558086C>G	GRCh37
NC_000001.9:g.40330673C>G	NCBI36
NG_009192.1:g.10057G>C , LRG_690:g.10057G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*54G>C	ENSP00000361865.5:n.*54G>C
ENST00000433473.8:c.215G>C	ENSP00000394863.4:p.Gly72Ala
ENST00000439754.6:c.218G>C	ENSP00000403207.2:p.Gly73Ala
ENST00000449045.7:c.125-2902G>C	ENSP00000392293.2:n.125-2902G>C
ENST00000526547.2:c.498G>C
ENST00000527311.7:c.218G>C	ENSP00000436695.3:p.Gly73Ala
ENST00000530704.6:c.218G>C	ENSP00000431655.1:p.Gly73Ala
ENST00000641083.1:c.196G>C
ENST00000641236.1:n.230G>C
ENST00000641319.1:c.218G>C	ENSP00000493128.1:p.Gly73Ala
ENST00000641471.1:c.305G>C	ENSP00000493146.1:p.Gly102Ala
ENST00000641548.1:c.*70G>C	ENSP00000492984.1:n.*70G>C
ENST00000641691.1:c.*70G>C	ENSP00000492910.1:n.*70G>C
ENST00000641924.1:c.124+4701G>C	ENSP00000493063.1:n.124+4701G>C
ENST00000642050.2:c.218G>C MANE Select	ENSP00000493153.1:p.Gly73Ala
ENST00000372779.8:c.305G>C	ENSP00000361865.4:p.Gly102Ala
ENST00000433473.7:c.218G>C	ENSP00000394863.3:p.Gly73Ala
ENST00000449045.6:c.125-2902G>C	ENSP00000392293.2:n.125-2902G>C
ENST00000526547.1:c.68G>C	ENSP00000436481.1:p.Gly23Ala
ENST00000527311.6:c.125-357G>C	ENSP00000436695.2:n.125-357G>C
ENST00000529905.5:c.218G>C	ENSP00000432053.1:p.Gly73Ala
ENST00000530704.5:c.218G>C	ENSP00000431655.1:p.Gly73Ala
NM_000310.3:c.218G>C , LRG_690t1:c.218G>C	NP_000301.1:p.Gly73Ala
NM_001142604.1:c.125-2902G>C	NP_001136076.1:n.125-2902G>C
XM_005271008.1:c.218G>C	XP_005271065.1:p.Gly73Ala
NM_001363695.1:c.218G>C	NP_001350624.1:p.Gly73Ala
NM_000310.4:c.218G>C MANE Select	NP_000301.1:p.Gly73Ala
NM_001142604.2:c.125-2902G>C	NP_001136076.1:n.125-2902G>C
NM_001363695.2:c.218G>C	NP_001350624.1:p.Gly73Ala