Canonical Allele Identifier: CA16040726
Gene: PPT1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370544
ClinVar RCV Id: RCV000409710
dbSNP Id: rs1057516575

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40074161dup , CM000663.2:g.40074161dup GRCh38
NC_000001.10:g.40539833dup , CM000663.1:g.40539833dup GRCh37
NC_000001.9:g.40312420dup NCBI36
NG_009192.1:g.28310dup , LRG_690:g.28310dup

Transcript Alleles

HGVS Amino-acid change
NM_000310.3:c.821dup , LRG_690t1:c.821dup NP_000301.1:p.Met274IlefsTer21
NM_001142604.1:c.512dup VV NP_001136076.1:p.Met171IlefsTer21
XM_005271008.1:c.749dup XP_005271065.1:p.Met250IlefsTer21
NM_001363695.1:c.749dup VV NP_001350624.1:p.Met250IlefsTer21
ENST00000372775.2:n.218dup
ENST00000433473.7:c.821dup ENSP00000394863.3:p.Met274IlefsTer21
ENST00000439754.5:n.434dup ENSP00000403207.1:p.Met145IlefsTer21
ENST00000449045.6:c.512dup ENSP00000392293.2:p.Met171IlefsTer21
ENST00000527311.6:c.596dup ENSP00000436695.2:p.Met199IlefsTer?
ENST00000529905.5:c.821dup ENSP00000432053.1:p.Met274IlefsTer21
ENST00000530076.5:c.164dup ENSP00000434007.1:p.Met55IlefsTer21
ENST00000530704.5:c.*444dup ENSP00000431655.1:p.=