Canonical Allele Identifier: CA339846728

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40544273T>G (hg19) ; chr1:g.40078601T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078601T>G , CM000663.2:g.40078601T>G	GRCh38
NC_000001.10:g.40544273T>G , CM000663.1:g.40544273T>G	GRCh37
NC_000001.9:g.40316860T>G	NCBI36
NG_009192.1:g.23870A>C , LRG_690:g.23870A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.682A>C	ENSP00000394863.4:p.Lys228Gln
ENST00000439754.6:c.685A>C	ENSP00000403207.2:p.Lys229Gln
ENST00000449045.7:c.376A>C	ENSP00000392293.2:p.Lys126Gln
ENST00000527311.7:c.454A>C	ENSP00000436695.3:p.Lys152Gln
ENST00000530076.6:c.28A>C	ENSP00000434007.1:p.Lys10Gln
ENST00000530704.6:c.*308A>C	ENSP00000431655.1:n.*308A>C
ENST00000641083.1:c.663A>C
ENST00000641236.1:n.922A>C
ENST00000641319.1:c.685A>C	ENSP00000493128.1:p.Lys229Gln
ENST00000641381.1:c.149-1688A>C
ENST00000641471.1:c.772A>C	ENSP00000493146.1:p.Lys258Gln
ENST00000641691.1:c.*537A>C	ENSP00000492910.1:n.*537A>C
ENST00000641924.1:c.*114A>C	ENSP00000493063.1:n.*114A>C
ENST00000642050.2:c.685A>C MANE Select	ENSP00000493153.1:p.Lys229Gln
ENST00000372775.2:n.82A>C
ENST00000372779.8:c.772A>C	ENSP00000361865.4:p.Lys258Gln
ENST00000433473.7:c.685A>C	ENSP00000394863.3:p.Lys229Gln
ENST00000439754.5:c.370A>C	ENSP00000403207.1:p.Lys124Gln
ENST00000449045.6:c.376A>C	ENSP00000392293.2:p.Lys126Gln
ENST00000527311.6:c.460A>C	ENSP00000436695.2:p.Lys154Gln
ENST00000529905.5:c.685A>C	ENSP00000432053.1:p.Lys229Gln
ENST00000530076.5:c.28A>C	ENSP00000434007.1:p.Lys10Gln
ENST00000530704.5:c.*308A>C	ENSP00000431655.1:n.*308A>C
NM_000310.3:c.685A>C , LRG_690t1:c.685A>C	NP_000301.1:p.Lys229Gln
NM_001142604.1:c.376A>C	NP_001136076.1:p.Lys126Gln
XM_005271008.1:c.685A>C	XP_005271065.1:p.Lys229Gln
NM_001363695.1:c.685A>C	NP_001350624.1:p.Lys229Gln
NM_000310.4:c.685A>C MANE Select	NP_000301.1:p.Lys229Gln
NM_001142604.2:c.376A>C	NP_001136076.1:p.Lys126Gln
NM_001363695.2:c.685A>C	NP_001350624.1:p.Lys229Gln