Canonical Allele Identifier: CA339847617

Gene: PPT1

Linked Data

• MyVariant Identifiers: chr1:g.40546086C>T (hg19) ; chr1:g.40080414C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40080414C>T , CM000663.2:g.40080414C>T	GRCh38
NC_000001.10:g.40546086C>T , CM000663.1:g.40546086C>T	GRCh37
NC_000001.9:g.40318673C>T	NCBI36
NG_009192.1:g.22057G>A , LRG_690:g.22057G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.607G>A	ENSP00000394863.4:p.Asp203Asn
ENST00000439754.6:c.610G>A	ENSP00000403207.2:p.Asp204Asn
ENST00000449045.7:c.301G>A	ENSP00000392293.2:p.Asp101Asn
ENST00000527311.7:c.379G>A	ENSP00000436695.3:p.Asp127Asn
ENST00000530076.6:c.-48G>A	ENSP00000434007.1:n.-48G>A
ENST00000530704.6:c.*233G>A	ENSP00000431655.1:n.*233G>A
ENST00000641083.1:c.588G>A
ENST00000641236.1:n.847G>A
ENST00000641319.1:c.610G>A	ENSP00000493128.1:p.Asp204Asn
ENST00000641381.1:c.149-3501G>A
ENST00000641471.1:c.697G>A	ENSP00000493146.1:p.Asp233Asn
ENST00000641691.1:c.*462G>A	ENSP00000492910.1:n.*462G>A
ENST00000641924.1:c.*39G>A	ENSP00000493063.1:n.*39G>A
ENST00000642050.2:c.610G>A MANE Select	ENSP00000493153.1:p.Asp204Asn
ENST00000372779.8:c.697G>A	ENSP00000361865.4:p.Asp233Asn
ENST00000433473.7:c.610G>A	ENSP00000394863.3:p.Asp204Asn
ENST00000439754.5:c.295G>A	ENSP00000403207.1:p.Asp99Asn
ENST00000449045.6:c.301G>A	ENSP00000392293.2:p.Asp101Asn
ENST00000527311.6:c.385G>A	ENSP00000436695.2:p.Asp129Asn
ENST00000529905.5:c.610G>A	ENSP00000432053.1:p.Asp204Asn
ENST00000530076.5:c.-48G>A	ENSP00000434007.1:n.-48G>A
ENST00000530704.5:c.*233G>A	ENSP00000431655.1:n.*233G>A
NM_000310.3:c.610G>A , LRG_690t1:c.610G>A	NP_000301.1:p.Asp204Asn
NM_001142604.1:c.301G>A	NP_001136076.1:p.Asp101Asn
XM_005271008.1:c.610G>A	XP_005271065.1:p.Asp204Asn
NM_001363695.1:c.610G>A	NP_001350624.1:p.Asp204Asn
NM_000310.4:c.610G>A MANE Select	NP_000301.1:p.Asp204Asn
NM_001142604.2:c.301G>A	NP_001136076.1:p.Asp101Asn
NM_001363695.2:c.610G>A	NP_001350624.1:p.Asp204Asn