Canonical Allele Identifier: CA339847803

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40546127A>G (hg19) ; chr1:g.40080455A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080455A>G , CM000663.2:g.40080455A>G	GRCh38
NC_000001.10:g.40546127A>G , CM000663.1:g.40546127A>G	GRCh37
NC_000001.9:g.40318714A>G	NCBI36
NG_009192.1:g.22016T>C , LRG_690:g.22016T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*405T>C	ENSP00000361865.5:n.*405T>C
ENST00000433473.8:c.566T>C	ENSP00000394863.4:p.Ile189Thr
ENST00000439754.6:c.569T>C	ENSP00000403207.2:p.Ile190Thr
ENST00000449045.7:c.260T>C	ENSP00000392293.2:p.Ile87Thr
ENST00000527311.7:c.338T>C	ENSP00000436695.3:p.Ile113Thr
ENST00000530076.6:c.-89T>C	ENSP00000434007.1:n.-89T>C
ENST00000530704.6:c.*192T>C	ENSP00000431655.1:n.*192T>C
ENST00000641083.1:c.547T>C
ENST00000641236.1:n.806T>C
ENST00000641319.1:c.569T>C	ENSP00000493128.1:p.Ile190Thr
ENST00000641381.1:c.149-3542T>C
ENST00000641471.1:c.656T>C	ENSP00000493146.1:p.Ile219Thr
ENST00000641691.1:c.*421T>C	ENSP00000492910.1:n.*421T>C
ENST00000641924.1:c.157T>C	ENSP00000493063.1:p.Ter53Gln
ENST00000642050.2:c.569T>C MANE Select	ENSP00000493153.1:p.Ile190Thr
ENST00000372779.8:c.656T>C	ENSP00000361865.4:p.Ile219Thr
ENST00000433473.7:c.569T>C	ENSP00000394863.3:p.Ile190Thr
ENST00000439754.5:c.254T>C	ENSP00000403207.1:p.Ile85Thr
ENST00000449045.6:c.260T>C	ENSP00000392293.2:p.Ile87Thr
ENST00000527311.6:c.344T>C	ENSP00000436695.2:p.Ile115Thr
ENST00000529905.5:c.569T>C	ENSP00000432053.1:p.Ile190Thr
ENST00000530076.5:c.-89T>C	ENSP00000434007.1:n.-89T>C
ENST00000530704.5:c.*192T>C	ENSP00000431655.1:n.*192T>C
NM_000310.3:c.569T>C , LRG_690t1:c.569T>C	NP_000301.1:p.Ile190Thr
NM_001142604.1:c.260T>C	NP_001136076.1:p.Ile87Thr
XM_005271008.1:c.569T>C	XP_005271065.1:p.Ile190Thr
NM_001363695.1:c.569T>C	NP_001350624.1:p.Ile190Thr
NM_000310.4:c.569T>C MANE Select	NP_000301.1:p.Ile190Thr
NM_001142604.2:c.260T>C	NP_001136076.1:p.Ile87Thr
NM_001363695.2:c.569T>C	NP_001350624.1:p.Ile190Thr