Canonical Allele Identifier: CA339847794

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40546125T>G (hg19) ; chr1:g.40080453T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080453T>G , CM000663.2:g.40080453T>G	GRCh38
NC_000001.10:g.40546125T>G , CM000663.1:g.40546125T>G	GRCh37
NC_000001.9:g.40318712T>G	NCBI36
NG_009192.1:g.22018A>C , LRG_690:g.22018A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*407A>C	ENSP00000361865.5:n.*407A>C
ENST00000433473.8:c.568A>C	ENSP00000394863.4:p.Lys190Gln
ENST00000439754.6:c.571A>C	ENSP00000403207.2:p.Lys191Gln
ENST00000449045.7:c.262A>C	ENSP00000392293.2:p.Lys88Gln
ENST00000527311.7:c.340A>C	ENSP00000436695.3:p.Lys114Gln
ENST00000530076.6:c.-87A>C	ENSP00000434007.1:n.-87A>C
ENST00000530704.6:c.*194A>C	ENSP00000431655.1:n.*194A>C
ENST00000641083.1:c.549A>C
ENST00000641236.1:n.808A>C
ENST00000641319.1:c.571A>C	ENSP00000493128.1:p.Lys191Gln
ENST00000641381.1:c.149-3540A>C
ENST00000641471.1:c.658A>C	ENSP00000493146.1:p.Lys220Gln
ENST00000641691.1:c.*423A>C	ENSP00000492910.1:n.*423A>C
ENST00000641924.1:c.159A>C	ENSP00000493063.1:p.Ter53Tyr
ENST00000642050.2:c.571A>C MANE Select	ENSP00000493153.1:p.Lys191Gln
ENST00000372779.8:c.658A>C	ENSP00000361865.4:p.Lys220Gln
ENST00000433473.7:c.571A>C	ENSP00000394863.3:p.Lys191Gln
ENST00000439754.5:c.256A>C	ENSP00000403207.1:p.Lys86Gln
ENST00000449045.6:c.262A>C	ENSP00000392293.2:p.Lys88Gln
ENST00000527311.6:c.346A>C	ENSP00000436695.2:p.Lys116Gln
ENST00000529905.5:c.571A>C	ENSP00000432053.1:p.Lys191Gln
ENST00000530076.5:c.-87A>C	ENSP00000434007.1:n.-87A>C
ENST00000530704.5:c.*194A>C	ENSP00000431655.1:n.*194A>C
NM_000310.3:c.571A>C , LRG_690t1:c.571A>C	NP_000301.1:p.Lys191Gln
NM_001142604.1:c.262A>C	NP_001136076.1:p.Lys88Gln
XM_005271008.1:c.571A>C	XP_005271065.1:p.Lys191Gln
NM_001363695.1:c.571A>C	NP_001350624.1:p.Lys191Gln
NM_000310.4:c.571A>C MANE Select	NP_000301.1:p.Lys191Gln
NM_001142604.2:c.262A>C	NP_001136076.1:p.Lys88Gln
NM_001363695.2:c.571A>C	NP_001350624.1:p.Lys191Gln