Canonical Allele Identifier: CA417322020

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539820T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074148T>G , CM000663.2:g.40074148T>G	GRCh38
NC_000001.10:g.40539820T>G , CM000663.1:g.40539820T>G	GRCh37
NC_000001.9:g.40312407T>G	NCBI36
NG_009192.1:g.28323A>C , LRG_690:g.28323A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.831A>C	ENSP00000394863.4:p.Gly277=
ENST00000439754.6:c.762A>C	ENSP00000403207.2:p.Gly254=
ENST00000449045.7:c.525A>C	ENSP00000392293.2:p.Gly175=
ENST00000527311.7:c.603A>C	ENSP00000436695.3:p.Gly201=
ENST00000530076.6:c.177A>C	ENSP00000434007.1:p.Gly59=
ENST00000530704.6:c.*457A>C	ENSP00000431655.1:n.*457A>C
ENST00000641083.1:c.924A>C
ENST00000641236.1:n.1071A>C
ENST00000641319.1:c.*44A>C	ENSP00000493128.1:n.*44A>C
ENST00000641381.1:c.256A>C
ENST00000641471.1:c.921A>C	ENSP00000493146.1:p.Gly307=
ENST00000641691.1:c.*686A>C	ENSP00000492910.1:n.*686A>C
ENST00000641924.1:c.*263A>C	ENSP00000493063.1:n.*263A>C
ENST00000642050.2:c.834A>C MANE Select	ENSP00000493153.1:p.Gly278=
ENST00000372775.2:n.231A>C
ENST00000433473.7:c.834A>C	ENSP00000394863.3:p.Gly278=
ENST00000439754.5:c.447A>C	ENSP00000403207.1:p.Gly149=
ENST00000449045.6:c.525A>C	ENSP00000392293.2:p.Gly175=
ENST00000527311.6:c.609A>C	ENSP00000436695.2:p.Gly203=
ENST00000529905.5:c.834A>C	ENSP00000432053.1:p.Gly278=
ENST00000530076.5:c.177A>C	ENSP00000434007.1:p.Gly59=
ENST00000530704.5:c.*457A>C	ENSP00000431655.1:n.*457A>C
NM_000310.3:c.834A>C , LRG_690t1:c.834A>C	NP_000301.1:p.Gly278=
NM_001142604.1:c.525A>C	NP_001136076.1:p.Gly175=
XM_005271008.1:c.762A>C	XP_005271065.1:p.Gly254=
NM_001363695.1:c.762A>C	NP_001350624.1:p.Gly254=
NM_000310.4:c.834A>C MANE Select	NP_000301.1:p.Gly278=
NM_001142604.2:c.525A>C	NP_001136076.1:p.Gly175=
NM_001363695.2:c.762A>C	NP_001350624.1:p.Gly254=