Canonical Allele Identifier: CA339847679

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40546100C>T (hg19) ; chr1:g.40080428C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080428C>T , CM000663.2:g.40080428C>T	GRCh38
NC_000001.10:g.40546100C>T , CM000663.1:g.40546100C>T	GRCh37
NC_000001.9:g.40318687C>T	NCBI36
NG_009192.1:g.22043G>A , LRG_690:g.22043G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.593G>A	ENSP00000394863.4:p.Ser198Asn
ENST00000439754.6:c.596G>A	ENSP00000403207.2:p.Ser199Asn
ENST00000449045.7:c.287G>A	ENSP00000392293.2:p.Ser96Asn
ENST00000527311.7:c.365G>A	ENSP00000436695.3:p.Ser122Asn
ENST00000530076.6:c.-62G>A	ENSP00000434007.1:n.-62G>A
ENST00000530704.6:c.*219G>A	ENSP00000431655.1:n.*219G>A
ENST00000641083.1:c.574G>A
ENST00000641236.1:n.833G>A
ENST00000641319.1:c.596G>A	ENSP00000493128.1:p.Ser199Asn
ENST00000641381.1:c.149-3515G>A
ENST00000641471.1:c.683G>A	ENSP00000493146.1:p.Ser228Asn
ENST00000641691.1:c.*448G>A	ENSP00000492910.1:n.*448G>A
ENST00000641924.1:c.*25G>A	ENSP00000493063.1:n.*25G>A
ENST00000642050.2:c.596G>A MANE Select	ENSP00000493153.1:p.Ser199Asn
ENST00000372779.8:c.683G>A	ENSP00000361865.4:p.Ser228Asn
ENST00000433473.7:c.596G>A	ENSP00000394863.3:p.Ser199Asn
ENST00000439754.5:c.281G>A	ENSP00000403207.1:p.Ser94Asn
ENST00000449045.6:c.287G>A	ENSP00000392293.2:p.Ser96Asn
ENST00000527311.6:c.371G>A	ENSP00000436695.2:p.Ser124Asn
ENST00000529905.5:c.596G>A	ENSP00000432053.1:p.Ser199Asn
ENST00000530076.5:c.-62G>A	ENSP00000434007.1:n.-62G>A
ENST00000530704.5:c.*219G>A	ENSP00000431655.1:n.*219G>A
NM_000310.3:c.596G>A , LRG_690t1:c.596G>A	NP_000301.1:p.Ser199Asn
NM_001142604.1:c.287G>A	NP_001136076.1:p.Ser96Asn
XM_005271008.1:c.596G>A	XP_005271065.1:p.Ser199Asn
NM_001363695.1:c.596G>A	NP_001350624.1:p.Ser199Asn
NM_000310.4:c.596G>A MANE Select	NP_000301.1:p.Ser199Asn
NM_001142604.2:c.287G>A	NP_001136076.1:p.Ser96Asn
NM_001363695.2:c.596G>A	NP_001350624.1:p.Ser199Asn