Canonical Allele Identifier: CA20999203

Gene: PPT1

Linked Data

• dbSNP Id: rs919962108
• gnomAD v4: 1-40074174-C-G
• MyVariant Identifiers: chr1:g.40539846C>G (hg19) ; chr1:g.40074174C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074174C>G , CM000663.2:g.40074174C>G	GRCh38
NC_000001.10:g.40539846C>G , CM000663.1:g.40539846C>G	GRCh37
NC_000001.9:g.40312433C>G	NCBI36
NG_009192.1:g.28297G>C , LRG_690:g.28297G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000433473.8:c.805G>C	ENSP00000394863.4:p.Gly269Arg
ENST00000439754.6:c.736G>C	ENSP00000403207.2:p.Gly246Arg
ENST00000449045.7:c.499G>C	ENSP00000392293.2:p.Gly167Arg
ENST00000527311.7:c.577G>C	ENSP00000436695.3:p.Gly193Arg
ENST00000530076.6:c.151G>C	ENSP00000434007.1:p.Gly51Arg
ENST00000530704.6:c.*431G>C	ENSP00000431655.1:n.*431G>C
ENST00000641083.1:c.898G>C
ENST00000641236.1:n.1045G>C
ENST00000641319.1:c.*18G>C	ENSP00000493128.1:n.*18G>C
ENST00000641381.1:c.230G>C
ENST00000641471.1:c.895G>C	ENSP00000493146.1:p.Gly299Arg
ENST00000641691.1:c.*660G>C	ENSP00000492910.1:n.*660G>C
ENST00000641924.1:c.*237G>C	ENSP00000493063.1:n.*237G>C
ENST00000642050.2:c.808G>C MANE Select	ENSP00000493153.1:p.Gly270Arg
ENST00000372775.2:n.205G>C
ENST00000433473.7:c.808G>C	ENSP00000394863.3:p.Gly270Arg
ENST00000439754.5:c.421G>C	ENSP00000403207.1:p.Gly141Arg
ENST00000449045.6:c.499G>C	ENSP00000392293.2:p.Gly167Arg
ENST00000527311.6:c.583G>C	ENSP00000436695.2:p.Gly195Arg
ENST00000529905.5:c.808G>C	ENSP00000432053.1:p.Gly270Arg
ENST00000530076.5:c.151G>C	ENSP00000434007.1:p.Gly51Arg
ENST00000530704.5:c.*431G>C	ENSP00000431655.1:n.*431G>C
NM_000310.3:c.808G>C , LRG_690t1:c.808G>C	NP_000301.1:p.Gly270Arg
NM_001142604.1:c.499G>C	NP_001136076.1:p.Gly167Arg
XM_005271008.1:c.736G>C	XP_005271065.1:p.Gly246Arg
NM_001363695.1:c.736G>C	NP_001350624.1:p.Gly246Arg
NM_000310.4:c.808G>C MANE Select	NP_000301.1:p.Gly270Arg
NM_001142604.2:c.499G>C	NP_001136076.1:p.Gly167Arg
NM_001363695.2:c.736G>C	NP_001350624.1:p.Gly246Arg