Canonical Allele Identifier: CA1164248823
Gene: PPT1 HGNC NCBI

Linked Data

dbSNP Id: rs1649933553

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097467dup , CM000663.2:g.40097467dup GRCh38
NC_000001.10:g.40563139dup , CM000663.1:g.40563139dup GRCh37
NC_000001.9:g.40335726dup NCBI36
NG_009192.1:g.5007dup , LRG_690:g.5007dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-226dup ENSP00000394863.3:n.-226dup
NM_000310.3:c.-226dup , LRG_690t1:c.-226dup NP_000301.1:n.-226dup
NM_001142604.1:c.-226dup NP_001136076.1:n.-226dup
NM_001363695.1:c.-226dup NP_001350624.1:n.-226dup