Canonical Allele Identifier: CA339848966

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40557722T>G (hg19) ; chr1:g.40092050T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092050T>G , CM000663.2:g.40092050T>G	GRCh38
NC_000001.10:g.40557722T>G , CM000663.1:g.40557722T>G	GRCh37
NC_000001.9:g.40330309T>G	NCBI36
NG_009192.1:g.10421A>C , LRG_690:g.10421A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*193A>C	ENSP00000361865.5:n.*193A>C
ENST00000433473.8:c.354A>C	ENSP00000394863.4:p.Gln118His
ENST00000439754.6:c.357A>C	ENSP00000403207.2:p.Gln119His
ENST00000449045.7:c.125-2538A>C	ENSP00000392293.2:n.125-2538A>C
ENST00000526547.2:c.637A>C
ENST00000527311.7:c.234+348A>C	ENSP00000436695.3:n.234+348A>C
ENST00000530704.6:c.357A>C	ENSP00000431655.1:p.Gln119His
ENST00000641083.1:c.335A>C
ENST00000641236.1:n.594A>C
ENST00000641319.1:c.357A>C	ENSP00000493128.1:p.Gln119His
ENST00000641471.1:c.444A>C	ENSP00000493146.1:p.Gln148His
ENST00000641548.1:c.*209A>C	ENSP00000492984.1:n.*209A>C
ENST00000641691.1:c.*209A>C	ENSP00000492910.1:n.*209A>C
ENST00000641924.1:c.124+5065A>C	ENSP00000493063.1:n.124+5065A>C
ENST00000642050.2:c.357A>C MANE Select	ENSP00000493153.1:p.Gln119His
ENST00000372779.8:c.444A>C	ENSP00000361865.4:p.Gln148His
ENST00000433473.7:c.357A>C	ENSP00000394863.3:p.Gln119His
ENST00000439754.5:c.42A>C	ENSP00000403207.1:p.Gln14His
ENST00000449045.6:c.125-2538A>C	ENSP00000392293.2:n.125-2538A>C
ENST00000526547.1:c.207A>C	ENSP00000436481.1:p.Gln69His
ENST00000527311.6:c.132A>C	ENSP00000436695.2:p.Gln44His
ENST00000529905.5:c.357A>C	ENSP00000432053.1:p.Gln119His
ENST00000530704.5:c.357A>C	ENSP00000431655.1:p.Gln119His
NM_000310.3:c.357A>C , LRG_690t1:c.357A>C	NP_000301.1:p.Gln119His
NM_001142604.1:c.125-2538A>C	NP_001136076.1:n.125-2538A>C
XM_005271008.1:c.357A>C	XP_005271065.1:p.Gln119His
NM_001363695.1:c.357A>C	NP_001350624.1:p.Gln119His
NM_000310.4:c.357A>C MANE Select	NP_000301.1:p.Gln119His
NM_001142604.2:c.125-2538A>C	NP_001136076.1:n.125-2538A>C
NM_001363695.2:c.357A>C	NP_001350624.1:p.Gln119His