Canonical Allele Identifier: CA789547

Gene: PPT1

Linked Data

• dbSNP Id: rs774474165
• ExAC: 1:40539802 A / G
• gnomAD v2: 1-40539802-A-G
• MyVariant Identifiers: chr1:g.40539802A>G (hg19) ; chr1:g.40074130A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074130A>G , CM000663.2:g.40074130A>G	GRCh38
NC_000001.10:g.40539802A>G , CM000663.1:g.40539802A>G	GRCh37
NC_000001.9:g.40312389A>G	NCBI36
NG_009192.1:g.28341T>C , LRG_690:g.28341T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.849T>C	ENSP00000394863.4:p.Ala283=
ENST00000439754.6:c.780T>C	ENSP00000403207.2:p.Ala260=
ENST00000449045.7:c.543T>C	ENSP00000392293.2:p.Ala181=
ENST00000527311.7:c.621T>C	ENSP00000436695.3:p.Ala207=
ENST00000530076.6:c.195T>C	ENSP00000434007.1:p.Ala65=
ENST00000530704.6:c.*475T>C	ENSP00000431655.1:n.*475T>C
ENST00000641083.1:c.942T>C
ENST00000641236.1:n.1089T>C
ENST00000641319.1:c.*62T>C	ENSP00000493128.1:n.*62T>C
ENST00000641381.1:c.274T>C
ENST00000641471.1:c.939T>C	ENSP00000493146.1:p.Ala313=
ENST00000641691.1:c.*704T>C	ENSP00000492910.1:n.*704T>C
ENST00000641924.1:c.*281T>C	ENSP00000493063.1:n.*281T>C
ENST00000642050.2:c.852T>C MANE Select	ENSP00000493153.1:p.Ala284=
ENST00000372775.2:n.249T>C
ENST00000433473.7:c.852T>C	ENSP00000394863.3:p.Ala284=
ENST00000439754.5:c.465T>C	ENSP00000403207.1:p.Ala155=
ENST00000449045.6:c.543T>C	ENSP00000392293.2:p.Ala181=
ENST00000529905.5:c.852T>C	ENSP00000432053.1:p.Ala284=
ENST00000530076.5:c.195T>C	ENSP00000434007.1:p.Ala65=
ENST00000530704.5:c.*475T>C	ENSP00000431655.1:n.*475T>C
NM_000310.3:c.852T>C , LRG_690t1:c.852T>C	NP_000301.1:p.Ala284=
NM_001142604.1:c.543T>C	NP_001136076.1:p.Ala181=
XM_005271008.1:c.780T>C	XP_005271065.1:p.Ala260=
NM_001363695.1:c.780T>C	NP_001350624.1:p.Ala260=
NM_000310.4:c.852T>C MANE Select	NP_000301.1:p.Ala284=
NM_001142604.2:c.543T>C	NP_001136076.1:p.Ala181=
NM_001363695.2:c.780T>C	NP_001350624.1:p.Ala260=