Canonical Allele Identifier: CA417321978

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40539780A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074108A>G , CM000663.2:g.40074108A>G	GRCh38
NC_000001.10:g.40539780A>G , CM000663.1:g.40539780A>G	GRCh37
NC_000001.9:g.40312367A>G	NCBI36
NG_009192.1:g.28363T>C , LRG_690:g.28363T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.871T>C	ENSP00000394863.4:p.Leu291=
ENST00000439754.6:c.802T>C	ENSP00000403207.2:p.Leu268=
ENST00000449045.7:c.565T>C	ENSP00000392293.2:p.Leu189=
ENST00000530076.6:c.217T>C	ENSP00000434007.1:p.Leu73=
ENST00000530704.6:c.*497T>C	ENSP00000431655.1:n.*497T>C
ENST00000641083.1:c.964T>C
ENST00000641236.1:n.1111T>C
ENST00000641319.1:c.*84T>C	ENSP00000493128.1:n.*84T>C
ENST00000641381.1:c.296T>C
ENST00000641471.1:c.961T>C	ENSP00000493146.1:p.Leu321=
ENST00000641691.1:c.*726T>C	ENSP00000492910.1:n.*726T>C
ENST00000641924.1:c.*303T>C	ENSP00000493063.1:n.*303T>C
ENST00000642050.2:c.874T>C MANE Select	ENSP00000493153.1:p.Leu292=
ENST00000372775.2:n.271T>C
ENST00000433473.7:c.874T>C	ENSP00000394863.3:p.Leu292=
ENST00000439754.5:c.487T>C	ENSP00000403207.1:p.Leu163=
ENST00000449045.6:c.565T>C	ENSP00000392293.2:p.Leu189=
ENST00000529905.5:c.874T>C	ENSP00000432053.1:p.Leu292=
ENST00000530076.5:c.217T>C	ENSP00000434007.1:p.Leu73=
ENST00000530704.5:c.*497T>C	ENSP00000431655.1:n.*497T>C
NM_000310.3:c.874T>C , LRG_690t1:c.874T>C	NP_000301.1:p.Leu292=
NM_001142604.1:c.565T>C	NP_001136076.1:p.Leu189=
XM_005271008.1:c.802T>C	XP_005271065.1:p.Leu268=
NM_001363695.1:c.802T>C	NP_001350624.1:p.Leu268=
NM_000310.4:c.874T>C MANE Select	NP_000301.1:p.Leu292=
NM_001142604.2:c.565T>C	NP_001136076.1:p.Leu189=
NM_001363695.2:c.802T>C	NP_001350624.1:p.Leu268=