Canonical Allele Identifier: CA339846710

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40544269A>G (hg19) ; chr1:g.40078597A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078597A>G , CM000663.2:g.40078597A>G	GRCh38
NC_000001.10:g.40544269A>G , CM000663.1:g.40544269A>G	GRCh37
NC_000001.9:g.40316856A>G	NCBI36
NG_009192.1:g.23874T>C , LRG_690:g.23874T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.686T>C	ENSP00000394863.4:p.Phe229Ser
ENST00000439754.6:c.689T>C	ENSP00000403207.2:p.Phe230Ser
ENST00000449045.7:c.380T>C	ENSP00000392293.2:p.Phe127Ser
ENST00000527311.7:c.458T>C	ENSP00000436695.3:p.Phe153Ser
ENST00000530076.6:c.32T>C	ENSP00000434007.1:p.Phe11Ser
ENST00000530704.6:c.*312T>C	ENSP00000431655.1:n.*312T>C
ENST00000641083.1:c.667T>C
ENST00000641236.1:n.926T>C
ENST00000641319.1:c.689T>C	ENSP00000493128.1:p.Phe230Ser
ENST00000641381.1:c.149-1684T>C
ENST00000641471.1:c.776T>C	ENSP00000493146.1:p.Phe259Ser
ENST00000641691.1:c.*541T>C	ENSP00000492910.1:n.*541T>C
ENST00000641924.1:c.*118T>C	ENSP00000493063.1:n.*118T>C
ENST00000642050.2:c.689T>C MANE Select	ENSP00000493153.1:p.Phe230Ser
ENST00000372775.2:n.86T>C
ENST00000372779.8:c.776T>C	ENSP00000361865.4:p.Phe259Ser
ENST00000433473.7:c.689T>C	ENSP00000394863.3:p.Phe230Ser
ENST00000439754.5:c.374T>C	ENSP00000403207.1:p.Phe125Ser
ENST00000449045.6:c.380T>C	ENSP00000392293.2:p.Phe127Ser
ENST00000527311.6:c.464T>C	ENSP00000436695.2:p.Phe155Ser
ENST00000529905.5:c.689T>C	ENSP00000432053.1:p.Phe230Ser
ENST00000530076.5:c.32T>C	ENSP00000434007.1:p.Phe11Ser
ENST00000530704.5:c.*312T>C	ENSP00000431655.1:n.*312T>C
NM_000310.3:c.689T>C , LRG_690t1:c.689T>C	NP_000301.1:p.Phe230Ser
NM_001142604.1:c.380T>C	NP_001136076.1:p.Phe127Ser
XM_005271008.1:c.689T>C	XP_005271065.1:p.Phe230Ser
NM_001363695.1:c.689T>C	NP_001350624.1:p.Phe230Ser
NM_000310.4:c.689T>C MANE Select	NP_000301.1:p.Phe230Ser
NM_001142604.2:c.380T>C	NP_001136076.1:p.Phe127Ser
NM_001363695.2:c.689T>C	NP_001350624.1:p.Phe230Ser