Canonical Allele Identifier: CA417321988

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539793C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074121C>G , CM000663.2:g.40074121C>G	GRCh38
NC_000001.10:g.40539793C>G , CM000663.1:g.40539793C>G	GRCh37
NC_000001.9:g.40312380C>G	NCBI36
NG_009192.1:g.28350G>C , LRG_690:g.28350G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.858G>C	ENSP00000394863.4:p.Gly286=
ENST00000439754.6:c.789G>C	ENSP00000403207.2:p.Gly263=
ENST00000449045.7:c.552G>C	ENSP00000392293.2:p.Gly184=
ENST00000530076.6:c.204G>C	ENSP00000434007.1:p.Gly68=
ENST00000530704.6:c.*484G>C	ENSP00000431655.1:n.*484G>C
ENST00000641083.1:c.951G>C
ENST00000641236.1:n.1098G>C
ENST00000641319.1:c.*71G>C	ENSP00000493128.1:n.*71G>C
ENST00000641381.1:c.283G>C
ENST00000641471.1:c.948G>C	ENSP00000493146.1:p.Gly316=
ENST00000641691.1:c.*713G>C	ENSP00000492910.1:n.*713G>C
ENST00000641924.1:c.*290G>C	ENSP00000493063.1:n.*290G>C
ENST00000642050.2:c.861G>C MANE Select	ENSP00000493153.1:p.Gly287=
ENST00000372775.2:n.258G>C
ENST00000433473.7:c.861G>C	ENSP00000394863.3:p.Gly287=
ENST00000439754.5:c.474G>C	ENSP00000403207.1:p.Gly158=
ENST00000449045.6:c.552G>C	ENSP00000392293.2:p.Gly184=
ENST00000529905.5:c.861G>C	ENSP00000432053.1:p.Gly287=
ENST00000530076.5:c.204G>C	ENSP00000434007.1:p.Gly68=
ENST00000530704.5:c.*484G>C	ENSP00000431655.1:n.*484G>C
NM_000310.3:c.861G>C , LRG_690t1:c.861G>C	NP_000301.1:p.Gly287=
NM_001142604.1:c.552G>C	NP_001136076.1:p.Gly184=
XM_005271008.1:c.789G>C	XP_005271065.1:p.Gly263=
NM_001363695.1:c.789G>C	NP_001350624.1:p.Gly263=
NM_000310.4:c.861G>C MANE Select	NP_000301.1:p.Gly287=
NM_001142604.2:c.552G>C	NP_001136076.1:p.Gly184=
NM_001363695.2:c.789G>C	NP_001350624.1:p.Gly263=