Canonical Allele Identifier: CA339845512

Gene: PPT1

Linked Data

• gnomAD v4: 1-40074113-A-G
• MyVariant Identifiers: chr1:g.40539785A>G (hg19) ; chr1:g.40074113A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074113A>G , CM000663.2:g.40074113A>G	GRCh38
NC_000001.10:g.40539785A>G , CM000663.1:g.40539785A>G	GRCh37
NC_000001.9:g.40312372A>G	NCBI36
NG_009192.1:g.28358T>C , LRG_690:g.28358T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.866T>C	ENSP00000394863.4:p.Leu289Pro
ENST00000439754.6:c.797T>C	ENSP00000403207.2:p.Leu266Pro
ENST00000449045.7:c.560T>C	ENSP00000392293.2:p.Leu187Pro
ENST00000530076.6:c.212T>C	ENSP00000434007.1:p.Leu71Pro
ENST00000530704.6:c.*492T>C	ENSP00000431655.1:n.*492T>C
ENST00000641083.1:c.959T>C
ENST00000641236.1:n.1106T>C
ENST00000641319.1:c.*79T>C	ENSP00000493128.1:n.*79T>C
ENST00000641381.1:c.291T>C
ENST00000641471.1:c.956T>C	ENSP00000493146.1:p.Leu319Pro
ENST00000641691.1:c.*721T>C	ENSP00000492910.1:n.*721T>C
ENST00000641924.1:c.*298T>C	ENSP00000493063.1:n.*298T>C
ENST00000642050.2:c.869T>C MANE Select	ENSP00000493153.1:p.Leu290Pro
ENST00000372775.2:n.266T>C
ENST00000433473.7:c.869T>C	ENSP00000394863.3:p.Leu290Pro
ENST00000439754.5:c.482T>C	ENSP00000403207.1:p.Leu161Pro
ENST00000449045.6:c.560T>C	ENSP00000392293.2:p.Leu187Pro
ENST00000529905.5:c.869T>C	ENSP00000432053.1:p.Leu290Pro
ENST00000530076.5:c.212T>C	ENSP00000434007.1:p.Leu71Pro
ENST00000530704.5:c.*492T>C	ENSP00000431655.1:n.*492T>C
NM_000310.3:c.869T>C , LRG_690t1:c.869T>C	NP_000301.1:p.Leu290Pro
NM_001142604.1:c.560T>C	NP_001136076.1:p.Leu187Pro
XM_005271008.1:c.797T>C	XP_005271065.1:p.Leu266Pro
NM_001363695.1:c.797T>C	NP_001350624.1:p.Leu266Pro
NM_000310.4:c.869T>C MANE Select	NP_000301.1:p.Leu290Pro
NM_001142604.2:c.560T>C	NP_001136076.1:p.Leu187Pro
NM_001363695.2:c.797T>C	NP_001350624.1:p.Leu266Pro